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_3900
With a mutation on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Achromatopsia 2
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGATGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA
Task1_train_3901
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Achromatopsia 2
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCACAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
Task1_train_3902
This variant affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Retinal dystrophy
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCACAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
Task1_train_3903
This alteration occurs within gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Achromatopsia 2
CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAA
CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCAAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAA
Task1_train_3904
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATC
TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCTCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATC
Task1_train_3905
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Achromatopsia
CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCAAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
Task1_train_3906
This mutation is located in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not specified
CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCAAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
Task1_train_3907
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCATTCAATAAGTGAATGGATAGATAAACAGTCAGGCGAGGTGGCGTGTGCCTATAATCCCAGCTACTAAGGAGGCTGAGAAGGGAAAATCATTTGAGTCCAACAGTTTGAGGACAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAAAAAAAAAAAAAAAACGAAAGAAATAAAGAAAAAAGTAAAACAGTGGTATATTTATACAA
TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGTGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCATTCAATAAGTGAATGGATAGATAAACAGTCAGGCGAGGTGGCGTGTGCCTATAATCCCAGCTACTAAGGAGGCTGAGAAGGGAAAATCATTTGAGTCCAACAGTTTGAGGACAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAAAAAAAAAAAAAAAACGAAAGAAATAAAGAAAAAAGTAAAACAGTGGTATATTTATACAA
Task1_train_3908
The gene COA5 (cytochrome c oxidase assembly factor 5), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGGAGAGGTGGGTGGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAACTTAGCTGGGCATGGTGGCAGCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCACTTGAACCCAGGACGCAGAGGTTGCAGCGAGCCAAGATCACACTACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGGGTCCCTAAGGTGCTCTTCTCAGTGTCAAAGTATATGTGAAACTCTGCCTTGTACTGATATTTAGAAATGGTAAGATCATTTTACTTTTTATGTAAGATTGTTAAAAATTTCTGCTGAAAGTAGATAAATTGTAAAAATAAAAAAAAATCTGACTTCGTTCTTTGGAGATCGAAGACTGAGCTTTAGGTAGAGAATTTCAGAGGGTTTACTGCACACGCTTTGAAATTCTTGACAAAGTTAAAGGTTTGCATTTTACATGGGTAACAAATCTATGTGAGAGAAGGCAAGAAAATCCTCCTCTATTCACACTGAATGACAGGAAAAGATGTCACTTAAGAAAGTAAACAGAGCAGGGCCAAATTTAATCTAACTTTACACCCTCCCTGGATCTGATTAGCTGGCAAACATGCTCCAAGTTCTTTGTTTACAACCACTTGCAGGTCGTAAGTATCAGTACCCTCCATTTCTTTTGTTAACAAAAAGGAAGGGATTTGCAGTGTAGTTCCTAAGCAAACAAAAGCATGCTCAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGCACAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGATCTGAGATTGCGCCACTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAACAAAAAACAAAAAACAAAAAAAAAACATCCTCAAGTCCAAGTGCTTTCTTCCTTTAATGGGATGCTCATATTTTTGGTTTTATACATTTCTCCAAGAAAAGGGTCTCAGTTTCCATTCCAAAGATCTCCATACATCTTCCAAATCAAAGAATGTTAGAATGAACCCCAGAGATTTGTAATCTCTTTTTAGGCCCTATTTCTACAATCCATCCCTCCAAAATTCAAACACAGATACTGACATTTTCTCTTAGTCACATAAGGCACAAATGTATACACCTTGGAGCTCCACATTATATGTTTGTATACAATTGCCAACTGATCTGAACTCGAGTGGCCAACATCAACTTTTACCCGTATATACCTGCCGAGACTTCATTCTCACACTTTCAGAAATGCATGAAGTTCAGCAGCTGTAGTTAGCACGGTGACAGAAGAACATAACAATGAGCTGTGGGTTTTTATGAACGCTACCTAACGTTAACTCACTGGAGGAAGAAATATTATCTATGTAATTTTTTCCAAACCATATCACTGCAACTTACCTATAACTATTAAGTCATTCATATATTTAACCTCCCTATAGCTAATTTTTAGCATAGGCTTTTAAAAATCTTTAACCACTTACCACTGATCTTTTACACTCAAAAAATGCGTACTTCAAAGAGTTGCAGTATCCTTCCTTCAAACACTGCCGAGGTGATTTTCCTTCCTATGACAGACACATAAAACAATATAAACACCTTGGAAATTTTCTCACAAAGTACAAAATAATTGTCCTTCTGAAAATAGTCCTTTTTAAAAGTGTTAAAGGAGGAAAATAGAAAGTTATGTAGGAAATAGTTCTTAATTCATTTGGGCTATTGGTGCCTAAAGAATGAAAAAAAAATTGTAAAGTAACTTGGGAACTTTAAGGACACTGTTGAATTCTTGAAAACACTGGTTTCTATTGGATACTTTTCCTTAAACTGTTTATATAAAAATCTAGAAAGGGTTATCTTCATTTCCTTATGGGTGAAATGTGTGAACTGGGTACCCTAAAATCAGAATATTTTTAGTGTTGGCACGAAACACTTCACAAAGATATTAACAAGGCAGGCTGGAATACTACTTAAATAGAAACATGTGGCCCATTCATGCACCAGAAAAAATATAACCCAAAGCTCATCTGCTCTGCATAATCAGGGATTTTCCCTCAAGCAGATTTTGACTCTACAGCCGCATCACTGCAGCCACTCCCCAGAACCTTTATGTTGCAAGTGCCAGGCACGCTCTGCCAGTTTTTCCTATGAAAAGCTACAGGGTACTATGTCTGTGGTATTCCTGTTCCCCAGGAGTCTTGGCCACCTTCCAGTCTGTATGTCTGCCTGGGTCCTAGATATCAAATGTCATCTACCTCAGTGACTCTCAAAAGTGGATAAGAGTAGCAGGTTTCCTTCCTCTCCAAACTCTGCAATTCTGCTGGTGGGATGTGTTGCCCACATGAACGACGTGGAGGCAGACAAAAGAAGACTAACCATATAAAAGGTTATAACTATAGTTTATAAGCTGATGCCTCTTCAAACTGTATCTAAGATGCTACCTTTTTCAAAAGCTTTCAACCTATATTGTCAACTGCCTGGGGTAAAGATCCATCTAGATACACTAAAGCTAAGAGACAGTCATTCGTTATCCACTCCACCCCAAATAACAGACTGCTAGCTGTCTGCTCTTCCTTTTTATCCAGCATATGGCTGGGTGAGATCTCCTAGACGCCCTTGCATCTAGCTGTGGTCCTGTGACTAAGTTCTAGCCACTGGAATGTGTGGGAAACAGGTGTAGAACTTCTGGGTTGGTCCTTAAAGAGGCTTGCCCCTTTCCTCACTTCACTCCATAAGGTTGCCGGGCCTGATGATGTGGAAGCAAACCAGTCTTGGACCATGAATATGAGAGTAACACCCTACTTGCTATATTTTCCTATTTTCACAGCACAGAGTCACAAGATCAACAGTGTCTGCGTTCATGGAAGACTGAGGGAAATGACTAGGCCCTGATTATAGGCACAAGGACAAAAGAGAAAGTTCTCTATCTCGTTTAAGCCACTATTATTCTGGGTCTCTGTAACATGCACTTGAATCTATATTCTAACTAATACACTCCCAAGCTTTTTTGCCTTCTGAGGTCAAGATCAGTCAGTGCTCTCAAACATGGCTGTGCCCAAAACCAACCTAGGAAAGAAACTTTTAACTTATTGGGGGTAGGGTGAGGGCAGCAGTGGAATCTGTACTTTTAAAAAGCCACACCACTTCTAGGTGATTCTGATGAAGAGTCAGTGGATCTGGAAGCTGTTAGTGGAGACGAAGATACCCTATGATGAGTGAAGTTCCTCTGGCAGAGTTTCATTGTCCTGATCATCCAGGAGTCATTAAATCCTAAGAAGTCTCTTCAAGAGATGCCTTTTGAATCTGCTTTTTCCCTGCTTTCCTCCAGCCCCACTGGAATTTACATCCTTACCATTACCCTGAGTTTCTCTGAGGCCCTCTAACTCCTTGACAGTCTCCCAAAGCAGCACCTAGAACTAAATACATGTTTATGTTGAATTCCTCCCTAGAGCGAGGTGCTGCAGGTTTCAGGTGGGTTAAAGACTGGCAAGAAGAGACTACAGCACCAACCTGCCATAGGATCAGATTAACCTTTTTATTCAAGAACTTAAGAAATCAAAA
AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGGAGAGGTGGGTGGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAACTTAGCTGGGCATGGTGGCAGCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCACTTGAACCCAGGACGCAGAGGTTGCAGCGAGCCAAGATCACACTACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGGGTCCCTAAGGTGCTCTTCTCAGTGTCAAAGTATATGTGAAACTCTGCCTTGTACTGATATTTAGAAATGGTAAGATCATTTTACTTTTTATGTAAGATTGTTAAAAATTTCTGCTGAAAGTAGATAAATTGTAAAAATAAAAAAAAATCTGACTTCGTTCTTTGGAGATCGAAGACTGAGCTTTAGGTAGAGAATTTCAGAGGGTTTACTGCACACGCTTTGAAATTCTTGACAAAGTTAAAGGTTTGCATTTTACATGGGTAACAAATCTATGTGAGAGAAGGCAAGAAAATCCTCCTCTATTCACACTGAATGACAGGAAAAGATGTCACTTAAGAAAGTAAACAGAGCAGGGCCAAATTTAATCTAACTTTACACCCTCCCTGGATCTGATTAGCTGGCAAACATGCTCCAAGTTCTTTGTTTACAACCACTTGCAGGTCGTAAGTATCAGTACCCTCCATTTCTTTTGTTAACAAAAAGGAAGGGATTTGCAGTGTAGTTCCTAAGCAAACAAAAGCATGCTCAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGCACAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGATCTGAGATTGCGCCACTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAACAAAAAACAAAAAACAAAAAAAAAACATCCTCAAGTCCAAGTGCTTTCTTCCTTTAATGGGATGCTCATATTTTTGGTTTTATACATTTCTCCAAGAAAAGGGTCTCAGTTTCCATTCCAAAGATCTCCATACATCTTCCAAATCAAAGAATGTTAGAATGAACCCCAGAGATTTGTAATCTCTTTTTAGGCCCTATTTCTACAATCCATCCCTCCAAAATTCAAACACAGATACTGACATTTTCTCTTAGTCACATAAGGCACAAATGTATACACCTTGGAGCTCCACATTATATGTTTGTATACAATTGCCAACTGATCTGAACTCGAGTGGCCAACATCAACTTTTACCCGTATATACCTGCCGAGACTTCATTCTCACACTTTCAGAAATGCATGAAGTTCAGCAGCTGTAGTTAGCACGGTGACAGAAGAACATAACAATGAGCTGTGGGTTTTTATGAACGCTACCTAACGTTAACTCACTGGAGGAAGAAATATTATCTATGTAATTTTTTCCAAACCATATCACTGCAACTTACCTATAACTATTAAGTCATTCATATATTTAACCTCCCTATAGCTAATTTTTAGCATAGGCTTTTAAAAATCTTTAACCACTTACCACTGATCTTTTACACTCAAAAAATGGGTACTTCAAAGAGTTGCAGTATCCTTCCTTCAAACACTGCCGAGGTGATTTTCCTTCCTATGACAGACACATAAAACAATATAAACACCTTGGAAATTTTCTCACAAAGTACAAAATAATTGTCCTTCTGAAAATAGTCCTTTTTAAAAGTGTTAAAGGAGGAAAATAGAAAGTTATGTAGGAAATAGTTCTTAATTCATTTGGGCTATTGGTGCCTAAAGAATGAAAAAAAAATTGTAAAGTAACTTGGGAACTTTAAGGACACTGTTGAATTCTTGAAAACACTGGTTTCTATTGGATACTTTTCCTTAAACTGTTTATATAAAAATCTAGAAAGGGTTATCTTCATTTCCTTATGGGTGAAATGTGTGAACTGGGTACCCTAAAATCAGAATATTTTTAGTGTTGGCACGAAACACTTCACAAAGATATTAACAAGGCAGGCTGGAATACTACTTAAATAGAAACATGTGGCCCATTCATGCACCAGAAAAAATATAACCCAAAGCTCATCTGCTCTGCATAATCAGGGATTTTCCCTCAAGCAGATTTTGACTCTACAGCCGCATCACTGCAGCCACTCCCCAGAACCTTTATGTTGCAAGTGCCAGGCACGCTCTGCCAGTTTTTCCTATGAAAAGCTACAGGGTACTATGTCTGTGGTATTCCTGTTCCCCAGGAGTCTTGGCCACCTTCCAGTCTGTATGTCTGCCTGGGTCCTAGATATCAAATGTCATCTACCTCAGTGACTCTCAAAAGTGGATAAGAGTAGCAGGTTTCCTTCCTCTCCAAACTCTGCAATTCTGCTGGTGGGATGTGTTGCCCACATGAACGACGTGGAGGCAGACAAAAGAAGACTAACCATATAAAAGGTTATAACTATAGTTTATAAGCTGATGCCTCTTCAAACTGTATCTAAGATGCTACCTTTTTCAAAAGCTTTCAACCTATATTGTCAACTGCCTGGGGTAAAGATCCATCTAGATACACTAAAGCTAAGAGACAGTCATTCGTTATCCACTCCACCCCAAATAACAGACTGCTAGCTGTCTGCTCTTCCTTTTTATCCAGCATATGGCTGGGTGAGATCTCCTAGACGCCCTTGCATCTAGCTGTGGTCCTGTGACTAAGTTCTAGCCACTGGAATGTGTGGGAAACAGGTGTAGAACTTCTGGGTTGGTCCTTAAAGAGGCTTGCCCCTTTCCTCACTTCACTCCATAAGGTTGCCGGGCCTGATGATGTGGAAGCAAACCAGTCTTGGACCATGAATATGAGAGTAACACCCTACTTGCTATATTTTCCTATTTTCACAGCACAGAGTCACAAGATCAACAGTGTCTGCGTTCATGGAAGACTGAGGGAAATGACTAGGCCCTGATTATAGGCACAAGGACAAAAGAGAAAGTTCTCTATCTCGTTTAAGCCACTATTATTCTGGGTCTCTGTAACATGCACTTGAATCTATATTCTAACTAATACACTCCCAAGCTTTTTTGCCTTCTGAGGTCAAGATCAGTCAGTGCTCTCAAACATGGCTGTGCCCAAAACCAACCTAGGAAAGAAACTTTTAACTTATTGGGGGTAGGGTGAGGGCAGCAGTGGAATCTGTACTTTTAAAAAGCCACACCACTTCTAGGTGATTCTGATGAAGAGTCAGTGGATCTGGAAGCTGTTAGTGGAGACGAAGATACCCTATGATGAGTGAAGTTCCTCTGGCAGAGTTTCATTGTCCTGATCATCCAGGAGTCATTAAATCCTAAGAAGTCTCTTCAAGAGATGCCTTTTGAATCTGCTTTTTCCCTGCTTTCCTCCAGCCCCACTGGAATTTACATCCTTACCATTACCCTGAGTTTCTCTGAGGCCCTCTAACTCCTTGACAGTCTCCCAAAGCAGCACCTAGAACTAAATACATGTTTATGTTGAATTCCTCCCTAGAGCGAGGTGCTGCAGGTTTCAGGTGGGTTAAAGACTGGCAAGAAGAGACTACAGCACCAACCTGCCATAGGATCAGATTAACCTTTTTATTCAAGAACTTAAGAAATCAAAA
Task1_train_3909
Here is a mutation in LIPT1, MITD1 (lipoyltransferase 1| microtubule interacting and trafficking domain containing 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Lipoyl transferase 1 deficiency
CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTTATGCTGCCAGTAAATCATATATCCCAAAGTCAAACAGGAAATTATTTTTAAAGTGTTATAAAGACATAATGAAAGCTTTCCACGGAAATGTTCATGAACACATCGTTGATAACCAGAAAAACTAGAAGCCACCTAAAATTACAGACTAAGAGACTGAGTAAACTTGTTAACAATGGAATATTAAACAGTCATTAAAGCTGATGCAAAATAGATTTAATGGGCCAACGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCCAAGACCAGCATGGCCAACATGGTGAAACCCCATGCCTACTAAAAATACAAAATTTAGCCACACGTGGTGGCAGGCGTCTGTTATCCCAGTGAGGTAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCACGCCACAGCATTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATAGATTGAATGTCGAATGAAATAATAGTATGGGGAGGGAAATGTGTGTGCGTATACATGCTTAGAAATAAAATGGGTTTACACCAAAATGTTAATTGTGATTAGGACTATCAATGCTTTTATTTTTTTCTTCTTGCTTGTCTGTATTTTCTCATTTTTCTCGATGAACATTTGTTACTTGTGAATTCAACATAATTTGGCTTTAAGATATAGGTAATGTGGCTGAGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTGTAAGAGAAAAAAAAAAGATATATTACATAATGTATTTGCAGCAGACTTATTGTTTGAAAACTGTGAAATTATTTCAACTGAAATTATTTGAAATTTGTCTTCATTTATTTCTTTTGAATACTTGGTTATAGCATTGCTAAAGACTAATTGTAAAGCTAAAAGCCAAAAGCAACTGCACTGGATACTTTAAGTTTGGATTAAATAACCGATAATTGATAGTTAGAAAATAGAATTTAATGTTCCTTTTCTCGATGAATTAATTTGTTTGTCTTCCATTTTTAAAAGCATGCTGATCCCATTTTCAATGAAGAATTGCTTCCAGTTACTTTGTAACTGCCAGGTCCCAGCAGCTGGCTTTAAAAAAACAGTAAAAAATGGGCTCATTTTACAGTCAATTTCCAATGATGTCTATCAAAATCTGGCTGTGGAAGACTGGATCCATGACCATATGAATCTAGAAGGCAAACCAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCTTGGCAGGAATGTAACCTGAATCTAATGAGAGAAGAAGGTATAAAACTGGCTCGGAGAAGAAGTGGAGGAGGAACAGTCTACCATGATATGGGTAATATCAATTTGACTTTCTTTACAACCAAAAAAAAGTATGATAGAATGGAAAATCTGAAATTAATTGTGAGAGCTCTGAATGCTGTCCAACCCCAGCTGGATGTGCAGGCTACCAAAAGATTTGACCTTTTACTTGATGGACAGTTTAAAATCTCAGGAACAGCTTCTAAGATCGGCCGGACTACTGCCTATCACCATTGCACTTTATTATGTAGTACTGATGGGACGTTCTTGTCTTCTTTGCTAAAGAGCCCTTACCAAGGGATCAGGAGCAATGCCACTGCTAGCATACCTTCCTTAGTGAAAAATCTTTTGGAAAAGGATCCCACTCTGACCTGTGAAGTACTAATGAATGCTGTTGCTACAGAGTATGCTGCTTATCATCAAATTGATAATCACATTCACCTAATAAACCCAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAAACTTGGGAGTGGATATATGGCAAAACTCCAAAGTTTAGTATAAATACTTCCTTTCATGTGTTATATGAACAGTCACACTTGGAAATTAAAGTATTCATAGACATAAAGAATGGAAGAATTGAAATTTGTAATATTGAAGCACCTGATCATTGGTTGCCATTGGAAATACGTGACAAATTAAATTCAAGTCTTATTGGCAGTAAGTTTTGCCCAACTGAAACTACCATGCTAACAAATATATTACTTAGAACATGTCCACAAGACCACAAACTAAACAGTAAATGGAATATTCTCTGTGAAAAAATTAAGGGAATAATGTGATTCCAAGTAAATGTCTTAATACAGTTTCAATTAGAAAATAAAATGTCTCATACTTGCACATTGTATGTCAAAAAAAAACCTAGTCTCTTTTAGTAACGTCAAAAAAAAAAAACAAAACACAACAACCTAGTCTCTTTCAGTAACTTCTCCCCATCTGAAATTCTTTATCACCTATCCCTATCTGTGTATTTCTTCTGACCTCTAGGATCCTCTTTCTTCTCTTTCTTCCTTCATTTATTTTATTTTATTTATTTCATTTATTTATTTTGAGACAGAGACTCACTCTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTTTACCTCCTGAGTTCAAGTGATCCTCATGCCTCAGCCTCCCGAGTAGTGGGACTACAGGGTTTTGTCACCATGCCCAGCTAATTTTTTCTATTTTTAATAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCTTGGCCTCAAGTGATCCGCCGACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCTGTCTGTTCATTGATTTTAATACCTGGCATGTATTTATATTTCAGCTGCTGCTGCTTTTACTCTCTTGGGGCTATATATAATATTGGACACTCTGACCTCAGACTTAGTTCTCTGTTTTTCTTATCTCTCGGAGATATAACCCAGATTTCTTGCCACCTCTCCTCATATCTCAAACTCTAAAATTCTCCCTTTTAGTTATATTTTCTTATCTTTCTACTCTCCCACTAAAAATCAAGGCTGTTGCACTTTTCTAAGCTCTTAACCCTTCCCTAATCTCTCCTTGCATCATTTCCCTTCTATCCCAGCCTGAAATTTACTTTATGCTTTACTTTCTTACCAGTATTCTCATTTGCTTCTCTCCTTTGACCTTCTACCATAGCCACTTTTTAATTTTAGTCTAAACAATTGATTTTCTACTCTTTTTGGCAGGTGATGCTGGGGGGAAAGATCATATAATCATTGAAGATTAGCCCAATTTGATATTTATAATTTTCAACTTATGTATCTTTCTGCTGGTGTCAGATTTAATTCATCTCTGGTTGAGTTCCCCTCATTCTTAAGGGGAATGTTTCCACTCTTCTCAAGCTCAGAATTTCACTACTCTTACCTTGTCACAAACCTTGATTCATAATTTGGTGAGAGTTGAGGCCTTCAGAAATGAGTCCCTCCAGCCCCCATGGCCCCCCTCCTCCCCTCTCCACTCCCTTTCTCTTCTTTCAAGACAGGGTCTTACCCTCACCCAGGCTGGAGTGCAGTGGCATGCTCATAGGTCACTACAGCCTTGAACTGGGCTCAAGTGATCCTGTTGCCTCAGGTTCTGGAGTAGCCGGAACTACAGATGCTCAACACCATGCCCAGCTCCCTCTGTTTATGAGTTATTTTCTTTTAATATATCTCAGTAGTTCCAGGCCCCAT
CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTTATGCTGCCAGTAAATCATATATCCCAAAGTCAAACAGGAAATTATTTTTAAAGTGTTATAAAGACATAATGAAAGCTTTCCACGGAAATGTTCATGAACACATCGTTGATAACCAGAAAAACTAGAAGCCACCTAAAATTACAGACTAAGAGACTGAGTAAACTTGTTAACAATGGAATATTAAACAGTCATTAAAGCTGATGCAAAATAGATTTAATGGGCCAACGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCCAAGACCAGCATGGCCAACATGGTGAAACCCCATGCCTACTAAAAATACAAAATTTAGCCACACGTGGTGGCAGGCGTCTGTTATCCCAGTGAGGTAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCACGCCACAGCATTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATAGATTGAATGTCGAATGAAATAATAGTATGGGGAGGGAAATGTGTGTGCGTATACATGCTTAGAAATAAAATGGGTTTACACCAAAATGTTAATTGTGATTAGGACTATCAATGCTTTTATTTTTTTCTTCTTGCTTGTCTGTATTTTCTCATTTTTCTCGATGAACATTTGTTACTTGTGAATTCAACATAATTTGGCTTTAAGATATAGGTAATGTGGCTGAGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTGTAAGAGAAAAAAAAAAGATATATTACATAATGTATTTGCAGCAGACTTATTGTTTGAAAACTGTGAAATTATTTCAACTGAAATTATTTGAAATTTGTCTTCATTTATTTCTTTTGAATACTTGGTTATAGCATTGCTAAAGACTAATTGTAAAGCTAAAAGCCAAAAGCAACTGCACTGGATACTTTAAGTTTGGATTAAATAACCGATAATTGATAGTTAGAAAATAGAATTTAATGTTCCTTTTCTCGATGAATTAATTTGTTTGTCTTCCATTTTTAAAAGCATGCTGATCCCATTTTCAATGAAGAATTGCTTCCAGTTACTTTGTAACTGCCAGGTCCCAGCAGCTGGCTTTAAAAAAACAGTAAAAAATGGGCTCATTTTACAGTCAATTTCCAATGATGTCTATCAAAATCTGGCTGTGGAAGACTGGATCCATGACCATATGAATCTAGAAGGCAAACCAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCTTGGCAGGAATGTAACCTGAATCTAATGAGAGAAGAAGGTATAAAACTGGCTCGGAGAAGAAGTGGAGGAGGAACAGTCTACCATGATATGGGTAATATCAATTTGACTTTCTTTACAACCAAAAAAAAGTATGATAGAATGGAAAATCTGAAATTAATTGTGAGAGCTCTGAATGCTGTCCAACCCCAGCTGGATGTGCAGGCTACCAAAAGATTTGACCTTTTACTTGATGGACAGTTTAAAATCTCAGGAACAGCTTCTAAGATCGGCCGGACTACTGCCTATCACCATTGCGCTTTATTATGTAGTACTGATGGGACGTTCTTGTCTTCTTTGCTAAAGAGCCCTTACCAAGGGATCAGGAGCAATGCCACTGCTAGCATACCTTCCTTAGTGAAAAATCTTTTGGAAAAGGATCCCACTCTGACCTGTGAAGTACTAATGAATGCTGTTGCTACAGAGTATGCTGCTTATCATCAAATTGATAATCACATTCACCTAATAAACCCAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAAACTTGGGAGTGGATATATGGCAAAACTCCAAAGTTTAGTATAAATACTTCCTTTCATGTGTTATATGAACAGTCACACTTGGAAATTAAAGTATTCATAGACATAAAGAATGGAAGAATTGAAATTTGTAATATTGAAGCACCTGATCATTGGTTGCCATTGGAAATACGTGACAAATTAAATTCAAGTCTTATTGGCAGTAAGTTTTGCCCAACTGAAACTACCATGCTAACAAATATATTACTTAGAACATGTCCACAAGACCACAAACTAAACAGTAAATGGAATATTCTCTGTGAAAAAATTAAGGGAATAATGTGATTCCAAGTAAATGTCTTAATACAGTTTCAATTAGAAAATAAAATGTCTCATACTTGCACATTGTATGTCAAAAAAAAACCTAGTCTCTTTTAGTAACGTCAAAAAAAAAAAACAAAACACAACAACCTAGTCTCTTTCAGTAACTTCTCCCCATCTGAAATTCTTTATCACCTATCCCTATCTGTGTATTTCTTCTGACCTCTAGGATCCTCTTTCTTCTCTTTCTTCCTTCATTTATTTTATTTTATTTATTTCATTTATTTATTTTGAGACAGAGACTCACTCTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTTTACCTCCTGAGTTCAAGTGATCCTCATGCCTCAGCCTCCCGAGTAGTGGGACTACAGGGTTTTGTCACCATGCCCAGCTAATTTTTTCTATTTTTAATAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCTTGGCCTCAAGTGATCCGCCGACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCTGTCTGTTCATTGATTTTAATACCTGGCATGTATTTATATTTCAGCTGCTGCTGCTTTTACTCTCTTGGGGCTATATATAATATTGGACACTCTGACCTCAGACTTAGTTCTCTGTTTTTCTTATCTCTCGGAGATATAACCCAGATTTCTTGCCACCTCTCCTCATATCTCAAACTCTAAAATTCTCCCTTTTAGTTATATTTTCTTATCTTTCTACTCTCCCACTAAAAATCAAGGCTGTTGCACTTTTCTAAGCTCTTAACCCTTCCCTAATCTCTCCTTGCATCATTTCCCTTCTATCCCAGCCTGAAATTTACTTTATGCTTTACTTTCTTACCAGTATTCTCATTTGCTTCTCTCCTTTGACCTTCTACCATAGCCACTTTTTAATTTTAGTCTAAACAATTGATTTTCTACTCTTTTTGGCAGGTGATGCTGGGGGGAAAGATCATATAATCATTGAAGATTAGCCCAATTTGATATTTATAATTTTCAACTTATGTATCTTTCTGCTGGTGTCAGATTTAATTCATCTCTGGTTGAGTTCCCCTCATTCTTAAGGGGAATGTTTCCACTCTTCTCAAGCTCAGAATTTCACTACTCTTACCTTGTCACAAACCTTGATTCATAATTTGGTGAGAGTTGAGGCCTTCAGAAATGAGTCCCTCCAGCCCCCATGGCCCCCCTCCTCCCCTCTCCACTCCCTTTCTCTTCTTTCAAGACAGGGTCTTACCCTCACCCAGGCTGGAGTGCAGTGGCATGCTCATAGGTCACTACAGCCTTGAACTGGGCTCAAGTGATCCTGTTGCCTCAGGTTCTGGAGTAGCCGGAACTACAGATGCTCAACACCATGCCCAGCTCCCTCTGTTTATGAGTTATTTTCTTTTAATATATCTCAGTAGTTCCAGGCCCCAT
Task1_train_3910
Gene AFF3 (ALF transcription elongation factor 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; KINSSHIP syndrome
GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTA
GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCCCATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTA
Task1_train_3911
Here is a variant affecting AFF3 (ALF transcription elongation factor 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; KINSSHIP syndrome
TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGAGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
Task1_train_3912
This is a variant in AFF3 (ALF transcription elongation factor 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Inborn genetic diseases
TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGTGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
Task1_train_3913
This variant lies on Chromosome 2 and affects the gene AFF3 (ALF transcription elongation factor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; KINSSHIP syndrome
TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCA
TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCAGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCA
Task1_train_3914
Mutation context: Chromosome 2, Gene AFF3 (ALF transcription elongation factor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; KINSSHIP syndrome
GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCAT
GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGATTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCAT
Task1_train_3915
Located on Chromosome 2, this mutation impacts POU3F3 (POU class 3 homeobox 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Snijders blok-fisher syndrome
GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAG
GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCCGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAG
Task1_train_3916
This mutation is located in gene POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Snijders blok-fisher syndrome
TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACT
TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCAGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACT
Task1_train_3917
A genetic alteration is present in POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Inborn genetic diseases
AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACTAATGAAAATCCCTAAGTAATAGCGTTGAGGAAGTAGAGCCTGCTCCACTTAAGGTACTTTTGGAAATCTAGAGTAAAGCATAGGCATTGCTGAGACAGCTAGTATTTTAACATAGTAGTCACTCCTCGATAATCCATAAATTCACAATATTTTTCTCTCCCTTAATTTTAGTGGATGTCTTTAGTGTTTTCAGGTGAGATTGCCTAAATATTAACCCTTTTCTTGGCGATACCTGTGTTTCTTATCGAAAGATTGAACGATATCACCAGTAAAAATGAGCCAA
AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAGTCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACTAATGAAAATCCCTAAGTAATAGCGTTGAGGAAGTAGAGCCTGCTCCACTTAAGGTACTTTTGGAAATCTAGAGTAAAGCATAGGCATTGCTGAGACAGCTAGTATTTTAACATAGTAGTCACTCCTCGATAATCCATAAATTCACAATATTTTTCTCTCCCTTAATTTTAGTGGATGTCTTTAGTGTTTTCAGGTGAGATTGCCTAAATATTAACCCTTTTCTTGGCGATACCTGTGTTTCTTATCGAAAGATTGAACGATATCACCAGTAAAAATGAGCCAA
Task1_train_3918
This alteration occurs within gene SLC5A7 (solute carrier family 5 member 7) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital myasthenic syndrome 20
AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACACCTGTCAACTCTGCGCGCTCCCAGGTTCTTGGAGACGCCGAGTGAGGAGCCGCCCTGACCGCCCGGCCCCGCTCCGCACTGCACCCCGACCCACCCCGCACCCTCCCTTTCTGCACCCTCGCACCCACACCCCTCGCGGTTCCAGGGGGCGGCGGCCCCGGGCGGAGCGCTTTCGCGTGCAGCCACCACTCCAGGTAGGAGCGGAGCGGGCATTCCTGCGCCTACGGGCCCGCACCCTCGGAAACGCCTTGGGCACCGAGCCCGGGCGGTTTTAGAGGGGAGGGACGCGGCGTTTTTCCCTCTCGGTGGGATGCGAGGGCGGGTTTGCTGTCTGGCACCGTTGCTGTCAGGGTGCAAGAGGCTACAAAGTCTGGGCGCAGGAAATGGGTAGAGGGGGCCGAGGAAAGGCCGCAGGGGGCCGGGAGAGCATCGGGCTGCTGCGGAGAGGAACTTGCCTGCTTGGTTGCTCACAAAGGCAGAGAAGACACAGCCCGCGGGCGCTTCTTTTGCCTCCTTTAAATTCCAGAGAGGCTGATTCTTTCCCCCAACGTCTCTTCACCCACCTGCACGCACAAATGTCAGAGTTTCCCCCAGAAACTTGTATGTGAGAGTTTGGGTTCATGGAACAGCTGTGGTCACAAAGGTAAAAAATAAATAAAAATAAAAATAAAAGGGGACAAGAATTTCAGAAGGTGAATGCTTTCGAACTTGACATCTGTCTTCTAAGAGTCTTGATTTTAATATCTTTGAGGCTTCTGATGTGCTTTTAGGCAATTGTGTTTAAAACAACAGCAACAACAACAACAAAACCTTTTCCTGTATGTACCATTAATGGGGGGTGATGAATTGAATGAAGGATATTGGGCGAAGAAGATCAAGAGAATGGATCCTTTCAACAACAAAAAACATACTTAGTTGCTATAGTAACTTGAACTACAGAAGCTTGTTGAAAATGTGGAGTTTGATGTGTTTTTGAAATGGATTTTTCTAAAGATTTTTTTCAGATATTTTTATATCAGATTACTACTGAAGCCATTCTCTGAAGTTGTTTGAAAGGACAGATAAAAGAATGAATAAATTAATGAATATTTTAAAATTTTCAGAATGGTCATTTATGAAACACTTAACACTTCTAGAATAAATAATTCTAGAAGAGTAACTTAGTTCCAAAACGCAGATACAGCGCTACTCTTTGTAAATGATTTGACAGTTACTGAGTTAAGATATACACGACAAGGTTAATTTTAAATTTAAAGCATGTATGAAACACACAAGGATTATGATTCCATTTGTTAAACTACATTTCCGTTTTTTTTTCTGTTTCTTGCAAACTCAAAATAATGTTAAATTGTTAAATAGAAGTAGGATAATGTAGTGGACACTTATTGTTAACTGCCCGTTTCACGTGTGGTTTCAGGGTTGTACTCTTTCTGTGAGTGGCACAGGATCTCGCATGAGCCAGCTGGTTTATTCCTGGCTGCCTACATGTGCATAGTGCTTGACTGGTTTATAATGCATCCCTGTATTTTCTTCAGAAGACTTAATGAAGTAGCCAGCTGCAGAAGAATCTGGATCATTAGATAAAAATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTGGTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAAGCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAGGTACGTTCAGACGCCGCCGGCTCCATGCAGTCCTCCCTTCCTTGGCATCTGTGAGTGTGCAGCGTGTGGCTTCAGAGTGACAAAGCAAATGTTGGTCTTTGTCCTTTGGGGATTCTTTATGTTCACTAGTTATATATATTTTAAAATAATTTTCTATTGATTTAAAACCTAAAAATAAATTGGTTTCAACTCAGTAGTACTTGAACAAAAATGATTTTATAATAAATCACTGGACTGAACAGTCATGAAACAAATCTTGGCTCCCTGGGCTATTGAGTGGGTGGAAACAGAGTAAAAACAAAGAGGTGGGGGAATGGGAAGCTGTCCTAGTATTACAAGCTATGTATCTGCTAATTAATGTGATAGGCAGCATCTCAACGTGTCCGGTAATACATGCATAAAGTTGTGACTTTGAGATTTAAATAAGTGCCAATGAATACCATCTAGTGATGGTTTTTAATCTGCATAAATAAATTTGGGGGTGATGATATTCCCAATTGAGTGATTCCCTGTTTTGAAACCTAATTCTTTCATTTAATAACTAATTCCTCACAGGAAGACAATCACATGTTATGAGTCCACAGCACTAATAAAGAGATTTCATGAACCTTGTTATAAAAGGGAAAAGCTAGGGTGTGTCCTCATAGGAATCCCCAGGCCACCATCTGCAGTCATCTCTCATTCAAACCTTCTTTGTGTTAGCAGGAGCTGATATTCTTTCTTACTTTGCACTAAAGTGGTTCTGTTTAAAGGGTGATTTGTTTCTTTTTTATATTCTTCTTGGTCGTTGAAAATAATTCTGAAAAACATCAACTTAGAATTATATGTTTAATATTTAATACAGTTGCACTAACAACACATATTTCATTATACAGTCTTAGTAGAGTTTTTAAACATTTGCAACATAGCAAGAACTGTGAGCGTTCATTGGAAAAATATCCCATGGGAAATGATATCAAGTGATGCCCAATTTCAGTCCCGAAGGGCAATTTTAAAATGATTCACCGTGTATATCAGATAGTTTACCAAACCAGTCTGGGGAGAGGCCATTCATGTTCTGAACCCCTTGACTTTGGCAATCTGAAACTTACAGTGTTCTATGTGAGCCATCAGTTTTATCTTTCAGACATTGACATTTTATCTTTGTTTAACTCTTCATCTACTGTACGTGGACTCATTTGGTCTTTATAACGGCATTATGATGAGCATCTGGGGTTAAGTGGAGATCCCGGGTTACAAGGTTAACAAGGACCAGGGCTGGAGCCAGAACCAAACACAGGTCTCCGGTAACTTAGTTCCAAAATGCAAGTACTGCGTCATGCTGGTGACCGCCCCATGCTGTGCCACATGCAGCCCTGTAACTAGTTTCACTTTATTTCTTTCAAAAGGTGCACAGTTTGTAAACACTGCAGAAAGAATAAGAAAGCTGCTGCATATCAAAATATGTTGTTTATTGAAAATAATTATAGCCCTCTACTATTCTCATTTAATATTCTGTTTAATATGGTCATAAAAATAATATTTTATATTTTGTTTTTACCATTTAGAATGGTTTTTTTCAACCTAACAAGCTATTAAAAGGTACGGAAAATATTTGAATCATGCTATTTTTTATAAAGGGCCATGATCTTCCTCAGTTCGTAAAACTTTTTTTTCTTTCTCAGAACTCAAAATAACCTTGGTCAATATCATAATTCATTTAAAATCTGAACCATACTACCTAACCTTGTCAGATTGATTGACTTGGATATATTTTATAAAGAATAGAGATAAAAAATGTTGATTCTTTTAAAAATGAATATATTTTAAGAGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATG
AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACACCTGTCAACTCTGCGCGCTCCCAGGTTCTTGGAGACGCCGAGTGAGGAGCCGCCCTGACCGCCCGGCCCCGCTCCGCACTGCACCCCGACCCACCCCGCACCCTCCCTTTCTGCACCCTCGCACCCACACCCCTCGCGGTTCCAGGGGGCGGCGGCCCCGGGCGGAGCGCTTTCGCGTGCAGCCACCACTCCAGGTAGGAGCGGAGCGGGCATTCCTGCGCCTACGGGCCCGCACCCTCGGAAACGCCTTGGGCACCGAGCCCGGGCGGTTTTAGAGGGGAGGGACGCGGCGTTTTTCCCTCTCGGTGGGATGCGAGGGCGGGTTTGCTGTCTGGCACCGTTGCTGTCAGGGTGCAAGAGGCTACAAAGTCTGGGCGCAGGAAATGGGTAGAGGGGGCCGAGGAAAGGCCGCAGGGGGCCGGGAGAGCATCGGGCTGCTGCGGAGAGGAACTTGCCTGCTTGGTTGCTCACAAAGGCAGAGAAGACACAGCCCGCGGGCGCTTCTTTTGCCTCCTTTAAATTCCAGAGAGGCTGATTCTTTCCCCCAACGTCTCTTCACCCACCTGCACGCACAAATGTCAGAGTTTCCCCCAGAAACTTGTATGTGAGAGTTTGGGTTCATGGAACAGCTGTGGTCACAAAGGTAAAAAATAAATAAAAATAAAAATAAAAGGGGACAAGAATTTCAGAAGGTGAATGCTTTCGAACTTGACATCTGTCTTCTAAGAGTCTTGATTTTAATATCTTTGAGGCTTCTGATGTGCTTTTAGGCAATTGTGTTTAAAACAACAGCAACAACAACAACAAAACCTTTTCCTGTATGTACCATTAATGGGGGGTGATGAATTGAATGAAGGATATTGGGCGAAGAAGATCAAGAGAATGGATCCTTTCAACAACAAAAAACATACTTAGTTGCTATAGTAACTTGAACTACAGAAGCTTGTTGAAAATGTGGAGTTTGATGTGTTTTTGAAATGGATTTTTCTAAAGATTTTTTTCAGATATTTTTATATCAGATTACTACTGAAGCCATTCTCTGAAGTTGTTTGAAAGGACAGATAAAAGAATGAATAAATTAATGAATATTTTAAAATTTTCAGAATGGTCATTTATGAAACACTTAACACTTCTAGAATAAATAATTCTAGAAGAGTAACTTAGTTCCAAAACGCAGATACAGCGCTACTCTTTGTAAATGATTTGACAGTTACTGAGTTAAGATATACACGACAAGGTTAATTTTAAATTTAAAGCATGTATGAAACACACAAGGATTATGATTCCATTTGTTAAACTACATTTCCGTTTTTTTTTCTGTTTCTTGCAAACTCAAAATAATGTTAAATTGTTAAATAGAAGTAGGATAATGTAGTGGACACTTATTGTTAACTGCCCGTTTCACGTGTGGTTTCAGGGTTGTACTCTTTCTGTGAGTGGCACAGGATCTCGCATGAGCCAGCTGGTTTATTCCTGGCTGCCTACATGTGCATAGTGCTTGACTGGTTTATAATGCATCCCTGTATTTTCTTCAGAAGACTTAATGAAGTAGCCAGCTGCAGAAGAATCTGGATCATTAGATAAAAATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTGGTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAAGCCATCATAGTTGGTGGCCGAGGTATTGGTTTATTGGTTGGTGGATTTACCATGACAGGTACGTTCAGACGCCGCCGGCTCCATGCAGTCCTCCCTTCCTTGGCATCTGTGAGTGTGCAGCGTGTGGCTTCAGAGTGACAAAGCAAATGTTGGTCTTTGTCCTTTGGGGATTCTTTATGTTCACTAGTTATATATATTTTAAAATAATTTTCTATTGATTTAAAACCTAAAAATAAATTGGTTTCAACTCAGTAGTACTTGAACAAAAATGATTTTATAATAAATCACTGGACTGAACAGTCATGAAACAAATCTTGGCTCCCTGGGCTATTGAGTGGGTGGAAACAGAGTAAAAACAAAGAGGTGGGGGAATGGGAAGCTGTCCTAGTATTACAAGCTATGTATCTGCTAATTAATGTGATAGGCAGCATCTCAACGTGTCCGGTAATACATGCATAAAGTTGTGACTTTGAGATTTAAATAAGTGCCAATGAATACCATCTAGTGATGGTTTTTAATCTGCATAAATAAATTTGGGGGTGATGATATTCCCAATTGAGTGATTCCCTGTTTTGAAACCTAATTCTTTCATTTAATAACTAATTCCTCACAGGAAGACAATCACATGTTATGAGTCCACAGCACTAATAAAGAGATTTCATGAACCTTGTTATAAAAGGGAAAAGCTAGGGTGTGTCCTCATAGGAATCCCCAGGCCACCATCTGCAGTCATCTCTCATTCAAACCTTCTTTGTGTTAGCAGGAGCTGATATTCTTTCTTACTTTGCACTAAAGTGGTTCTGTTTAAAGGGTGATTTGTTTCTTTTTTATATTCTTCTTGGTCGTTGAAAATAATTCTGAAAAACATCAACTTAGAATTATATGTTTAATATTTAATACAGTTGCACTAACAACACATATTTCATTATACAGTCTTAGTAGAGTTTTTAAACATTTGCAACATAGCAAGAACTGTGAGCGTTCATTGGAAAAATATCCCATGGGAAATGATATCAAGTGATGCCCAATTTCAGTCCCGAAGGGCAATTTTAAAATGATTCACCGTGTATATCAGATAGTTTACCAAACCAGTCTGGGGAGAGGCCATTCATGTTCTGAACCCCTTGACTTTGGCAATCTGAAACTTACAGTGTTCTATGTGAGCCATCAGTTTTATCTTTCAGACATTGACATTTTATCTTTGTTTAACTCTTCATCTACTGTACGTGGACTCATTTGGTCTTTATAACGGCATTATGATGAGCATCTGGGGTTAAGTGGAGATCCCGGGTTACAAGGTTAACAAGGACCAGGGCTGGAGCCAGAACCAAACACAGGTCTCCGGTAACTTAGTTCCAAAATGCAAGTACTGCGTCATGCTGGTGACCGCCCCATGCTGTGCCACATGCAGCCCTGTAACTAGTTTCACTTTATTTCTTTCAAAAGGTGCACAGTTTGTAAACACTGCAGAAAGAATAAGAAAGCTGCTGCATATCAAAATATGTTGTTTATTGAAAATAATTATAGCCCTCTACTATTCTCATTTAATATTCTGTTTAATATGGTCATAAAAATAATATTTTATATTTTGTTTTTACCATTTAGAATGGTTTTTTTCAACCTAACAAGCTATTAAAAGGTACGGAAAATATTTGAATCATGCTATTTTTTATAAAGGGCCATGATCTTCCTCAGTTCGTAAAACTTTTTTTTCTTTCTCAGAACTCAAAATAACCTTGGTCAATATCATAATTCATTTAAAATCTGAACCATACTACCTAACCTTGTCAGATTGATTGACTTGGATATATTTTATAAAGAATAGAGATAAAAAATGTTGATTCTTTTAAAAATGAATATATTTTAAGAGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATG
Task1_train_3919
The gene SLC5A7 (solute carrier family 5 member 7) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Congenital myasthenic syndrome 20
TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATGGATAAGCATTTAGGTCAAGACAAACAAACAAAGTCACTTAGAGAATAACTTATTAAAAAATGGTTTTGAAAAAAGAGCATTATGAAATGTTTATCTCCCTGTTAGCCTCTATGTAGAACATGTTCAAAAGCTCACCTTTAATTTAATTAAATGTATTAATTACTCCTGACCTTTATGTTCCGGTGCTGTAACTTTTAAGAGCACTTAATGAAAATACATCATGTTAATCCAAATTCAAAGGCATCTTCTACGTAGAGGTAATAAAATAGATTAAAGTTCACCTTTTGTCCTGTGGTATTCTGTAAAGGTGATCCAGGGTGATGTTCCTACAGCAACTTTGACTTTCGATTAGTAGAGTCTTTTATTGGATTGTTTAACTTTTAGGAGAGCAGTCCTGGTTCATAGTGTACACTCTCCATTCCAGTTGTTCATCCAGGAGACAGACACTTCAAAAATGTAAAGATGACTGACGAAGGTGGTATGTAGTGTTTGTCTCTGAAAAAAAAAAAGATAGTATTTCTCTCACAAGCAGAAAACATATATGGACGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTTTATTGTAGGAACACAGGCTAACAGAAACAGCATTAAGCCTATTTTTTCTTGGATTAGATACACATTCTTGTTTGTTATTTCTGTTATCATAAAATCTCAGTTAAGGCCACAAAGTTGCCTGCATGTAAGCAGGCTTTGGTGACAATTGTAATAGAAAATGAGGGAAGAAAAAATGGTAGGATCCAAAGAGAACAATTCCTATTTGGTCCAATGATCATGATATTAAAAAAGTTCAGCAAATAAAAAGCCGACTATGCTAATGAACATTTAAGGATTCCATAGTTCTTCAACACATGCTACAACTAACCAGTAAAGAAGCTATGTATTCAAAGATAAATCTGTGTTTCAAGTCTTCTTACCCTACCCACAACCAAAACTTCCTGAAAATTTCAGCCACATGACTGTAATTTTTATTCAATAAAAAGGGACTGTTCTTAACCTAGTGAAATTCTATGCAATGTGGAAATAGGAGAAAAGTAATGCTGAGGCAGCTTCAAAACCAAGTTTATGTACAGAGAGATGATGGCTGAGAATAGCCCTACTATTGTCTTTCTTCATTTACACATGAATAACTGAGCCTTAAAGAAGAAACAGTGAGTGTCCCACCACATTTCCAAGTGGTTGAAGGAATACTCTAGAATTCTGTTTATGAGAGTTTGTTTTCTATGATTCTAGGCAATGTAACACCATCATTGCAGAAAGGAAATATATATCTTACCACCAGTGTCTGTGCAGGCATTGTGAATAACACTAACTATAACCAATACCTTTTAGAAGCCAAGAGATATAAGACATTTCCACTTGACCAGCACATGGACTTCACACCAGACTAATGTATATGATTCTGAGTTTATTTCAAAACAACCTAGTAAATAGGATGACCCCAGATGGATAAAGAACATTTGGTTCCTTGGTGGTTATAATGGTTGTTGATTCTGTTCAACAGACTGGAACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTACCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTTTCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCACGGAACATCTACCAGCTTTCCTTCAGACAAAATGTAAGAACAGTTTCTTTCAACCTGACATTTACTAGCATTGCTCTTGCTGCTTCTGATGTTGTATTTGTTGTATATACAGTATTATATATTTATTAATATTCTATGTTAAATCTGACTGTACTTTAAGCATACGAGATTAAATAACAAATTATACCTATGCTGAATGGATGCTATCAGTACCTGTTCTTATTCATGTCAATACTAAAGGGAACAAATCAATATAATTATTTCCCAAGAGGTACAGTCACAGGGCTATCATTTAACCTTTTTGTCTTTCTGATGAAAGAGTAATGAAACCTAAACTATTCAGCAAAACTTTTAGTATAATTAAATTCTCTATGACACTGGAAAATCTTGGTGGAAGCAGGGCATGGTAAGTTGTTCGACACGTATTTTTGTAACTTCTGAACTGTTTTATACTTGCACTCCAAAGTCCACCTTTGCAGGAAGATATCCTCTCAATTTGATTTTCTTTATTGAATCAAAGTGGCTGCAAAACAGCATGCTTCTTGGTTGATTAAAGCTTTTCCTCTCTCTAGGTTTTAGTTAACAAAACAATCCCAGTGTTTTTGCTTTTGCTTTGTTTTGTTTTGATTTTATTTGATTTTTTTTAATTAACCAAAGGAACTCCTTGAACAAGGCATTTTCTTTTTGTTTTTAATTTTACTTTAAGTTCTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACATAAGTGTATGTGTGCCATGGTGGTTTGCTGCACCTATTGACCCGTCCTCTAAGTTCCTTCCTTGCACCACCCCCCACGCCCCCCAACAGGTCCCAGTGTGTGTTGCTCCCTCCCTGTATCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGACCATGTGGTGTTTGGTTTTCTGTTCCTGTGCTAGTTTGCTGAGGATGATGGCTTCCACCTTCATCCATGTCTCTGCAAAGGAATGATCTTATTCCTTTTTATGGCCACATAGTATTCCATGGTATACATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCATGACTTTGTTATTGTAAATAGTGCTGCAATAAACGTATGTGTGCATGTGTCTTTTCAAGAGCACCAGAAGGTGGTTAGTTTAAGGATGGTAGCACTTCTACAAAGAGATAAACTAGGGATGGCCTATGCTCTGTCAATGCCACATAAGAACTGTTCCCTAATATGTAAAGTGAGGAAATCTTCCCTTGCTTTATTATACCTCCCTGACACCATGTTAGCTCATCCTGCCTTTGCCCCTGTGCATTCAGGAAAAGGCTCAGGTGGCCTGTGTGTCATGCATCTGGTACACAGAAACCCCTCCCAAAGGTCCACCCAGGAAGTCACCTTGATTGTTTGCTTTGGGTGCTGTAGCTGTAGTTGGTTTTTCCCATAGATTGAGCCATTTGAACCAGGAGAATTCTTTAGACCAGTTTTGAAGCAAAAAATATGTCTCATTCTTTGCCTAAATGAGCCAAGACACTGTGCAAAAAGCTGACACTGTGGCAATTTCTTACAGGCTTCGGACAAAGAAATCGTTTGGGTTATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAAACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAGCTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTTTCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATCTTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAAACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTATCTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGACACAGTGAAGAAAACATGGA
TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATGGATAAGCATTTAGGTCAAGACAAACAAACAAAGTCACTTAGAGAATAACTTATTAAAAAATGGTTTTGAAAAAAGAGCATTATGAAATGTTTATCTCCCTGTTAGCCTCTATGTAGAACATGTTCAAAAGCTCACCTTTAATTTAATTAAATGTATTAATTACTCCTGACCTTTATGTTCCGGTGCTGTAACTTTTAAGAGCACTTAATGAAAATACATCATGTTAATCCAAATTCAAAGGCATCTTCTACGTAGAGGTAATAAAATAGATTAAAGTTCACCTTTTGTCCTGTGGTATTCTGTAAAGGTGATCCAGGGTGATGTTCCTACAGCAACTTTGACTTTCGATTAGTAGAGTCTTTTATTGGATTGTTTAACTTTTAGGAGAGCAGTCCTGGTTCATAGTGTACACTCTCCATTCCAGTTGTTCATCCAGGAGACAGACACTTCAAAAATGTAAAGATGACTGACGAAGGTGGTATGTAGTGTTTGTCTCTGAAAAAAAAAAAGATAGTATTTCTCTCACAAGCAGAAAACATATATGGACGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTTTATTGTAGGAACACAGGCTAACAGAAACAGCATTAAGCCTATTTTTTCTTGGATTAGATACACATTCTTGTTTGTTATTTCTGTTATCATAAAATCTCAGTTAAGGCCACAAAGTTGCCTGCATGTAAGCAGGCTTTGGTGACAATTGTAATAGAAAATGAGGGAAGAAAAAATGGTAGGATCCAAAGAGAACAATTCCTATTTGGTCCAATGATCATGATATTAAAAAAGTTCAGCAAATAAAAAGCCGACTATGCTAATGAACATTTAAGGATTCCATAGTTCTTCAACACATGCTACAACTAACCAGTAAAGAAGCTATGTATTCAAAGATAAATCTGTGTTTCAAGTCTTCTTACCCTACCCACAACCAAAACTTCCTGAAAATTTCAGCCACATGACTGTAATTTTTATTCAATAAAAAGGGACTGTTCTTAACCTAGTGAAATTCTATGCAATGTGGAAATAGGAGAAAAGTAATGCTGAGGCAGCTTCAAAACCAAGTTTATGTACAGAGAGATGATGGCTGAGAATAGCCCTACTATTGTCTTTCTTCATTTACACATGAATAACTGAGCCTTAAAGAAGAAACAGTGAGTGTCCCACCACATTTCCAAGTGGTTGAAGGAATACTCTAGAATTCTGTTTATGAGAGTTTGTTTTCTATGATTCTAGGCAATGTAACACCATCATTGCAGAAAGGAAATATATATCTTACCACCAGTGTCTGTGCAGGCATTGTGAATAACACTAACTATAACCAATACCTTTTAGAAGCCAAGAGATATAAGACATTTCCACTTGACCAGCACATGGACTTCACACCAGACTAATGTATATGATTCTGAGTTTATTTCAAAACAACCTAGTAAATAGGATGACCCCAGATGGATAAAGAACATTTGGTTCCTTGGTGGTTATAATGGTTGTTGATTCTGTTCAACAGACTGGAACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTACCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTTTCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCACAGAACATCTACCAGCTTTCCTTCAGACAAAATGTAAGAACAGTTTCTTTCAACCTGACATTTACTAGCATTGCTCTTGCTGCTTCTGATGTTGTATTTGTTGTATATACAGTATTATATATTTATTAATATTCTATGTTAAATCTGACTGTACTTTAAGCATACGAGATTAAATAACAAATTATACCTATGCTGAATGGATGCTATCAGTACCTGTTCTTATTCATGTCAATACTAAAGGGAACAAATCAATATAATTATTTCCCAAGAGGTACAGTCACAGGGCTATCATTTAACCTTTTTGTCTTTCTGATGAAAGAGTAATGAAACCTAAACTATTCAGCAAAACTTTTAGTATAATTAAATTCTCTATGACACTGGAAAATCTTGGTGGAAGCAGGGCATGGTAAGTTGTTCGACACGTATTTTTGTAACTTCTGAACTGTTTTATACTTGCACTCCAAAGTCCACCTTTGCAGGAAGATATCCTCTCAATTTGATTTTCTTTATTGAATCAAAGTGGCTGCAAAACAGCATGCTTCTTGGTTGATTAAAGCTTTTCCTCTCTCTAGGTTTTAGTTAACAAAACAATCCCAGTGTTTTTGCTTTTGCTTTGTTTTGTTTTGATTTTATTTGATTTTTTTTAATTAACCAAAGGAACTCCTTGAACAAGGCATTTTCTTTTTGTTTTTAATTTTACTTTAAGTTCTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACATAAGTGTATGTGTGCCATGGTGGTTTGCTGCACCTATTGACCCGTCCTCTAAGTTCCTTCCTTGCACCACCCCCCACGCCCCCCAACAGGTCCCAGTGTGTGTTGCTCCCTCCCTGTATCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGACCATGTGGTGTTTGGTTTTCTGTTCCTGTGCTAGTTTGCTGAGGATGATGGCTTCCACCTTCATCCATGTCTCTGCAAAGGAATGATCTTATTCCTTTTTATGGCCACATAGTATTCCATGGTATACATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCATGACTTTGTTATTGTAAATAGTGCTGCAATAAACGTATGTGTGCATGTGTCTTTTCAAGAGCACCAGAAGGTGGTTAGTTTAAGGATGGTAGCACTTCTACAAAGAGATAAACTAGGGATGGCCTATGCTCTGTCAATGCCACATAAGAACTGTTCCCTAATATGTAAAGTGAGGAAATCTTCCCTTGCTTTATTATACCTCCCTGACACCATGTTAGCTCATCCTGCCTTTGCCCCTGTGCATTCAGGAAAAGGCTCAGGTGGCCTGTGTGTCATGCATCTGGTACACAGAAACCCCTCCCAAAGGTCCACCCAGGAAGTCACCTTGATTGTTTGCTTTGGGTGCTGTAGCTGTAGTTGGTTTTTCCCATAGATTGAGCCATTTGAACCAGGAGAATTCTTTAGACCAGTTTTGAAGCAAAAAATATGTCTCATTCTTTGCCTAAATGAGCCAAGACACTGTGCAAAAAGCTGACACTGTGGCAATTTCTTACAGGCTTCGGACAAAGAAATCGTTTGGGTTATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAAACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAGCTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTTTCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATCTTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAAACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTATCTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGACACAGTGAAGAAAACATGGA
Task1_train_3920
This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATA
ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCCCTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATA
Task1_train_3921
This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGGCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
Task1_train_3922
A sequence alteration has been identified in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGGCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
Task1_train_3923
This alteration occurs within gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGTCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
Task1_train_3924
This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGTCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
Task1_train_3925
A variant has been detected on Chromosome 2 in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCATGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
Task1_train_3926
A variant was discovered on Chromosome 2, affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCATGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
Task1_train_3927
The gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
Task1_train_3928
This sequence change occurs on Chromosome 2, altering RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
Task1_train_3929
With a mutation on Chromosome 2 in gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
Task1_train_3930
Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGTGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
Task1_train_3931
This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGTGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
Task1_train_3932
Here is a mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAA
AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGTGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAA
Task1_train_3933
The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
Task1_train_3934
Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
Task1_train_3935
This sequence variant lies in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
Task1_train_3936
A genomic change on Chromosome 2 affects EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGCGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGTGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
Task1_train_3937
Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGCGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGTGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
Task1_train_3938
A variant affecting Chromosome 2, within the gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Non-syndromic oligodontia
GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAGAGATCTCTGGATTGAGACCAGGGCAGGCCCAGGGGTGGAGGGCATCACTCTGTTTGGCATTCACACCGAGGCCCTAACCCAGAGGGCTCCATCCACCCCAAGGCCTATCTGGCCGCATCTCCCCATTTCCCAGATGGGCAAGCCGAGGTCTGGGGCCTTGCCCAAGGGGCCTCTAATGGGAACACAGCAGGACTGTCTATTTCTCTGCTGACCTCCTTCAGGGCCGGATTCTAAGGCCCTACCCCGAGGCTTTCCTCGGAGCCGGCTTTCAGTAAAGCAGGCAAGGGCTGGGGGTGGGAGTGGGGTGCGCTCATCTTTAAAATCTTGAGGACTCAGGGGACTTTGCTTGCTTTCCACATGTGATAGACCTCATTGCTGGACTTAGAGAGGCGCCCCTGCCGTGACTCAAGTCTGCTCTGGCTGCCAGACATTGAACATTGAAGGCTGTGCCATGTGAGAACTCTTGAACAGAAAAGCCCCTGAGGAGGACTGCTCCTCTCCCAGGTTCCACAGGCAAAGATGCTTTTGTGAATAGGTGGGGAGTGTCTGACATCTTTCCAGACTGGTTCTTCAACCCAGAATGATCTGGCCTTGAATCAGCCTAGATCCCCACAGAGGACATGCGGGCCATGGCAGCTGGCTTCACCATGAGTCAGGCTGGCAGCCGAGCTGCGGCCTCCTCTAATTTGTGAATTAATTAGCATATGGCTGGCCAGGAAAATGGCTTTGAAGACGAGCAAACACATTGGTGCAGGGCTCATGCATTGCTCCTCCTGCAGCACAGCCCACAGCACAGAACCCTCCTCCTGGCTTGACCAAAAGGAGAGAGGAGATGCTGCGCCCCATTCCTGCTCCTCCCCTTCTTTCCAGCGTGATAAGACGCAGGCTCTCCTTCTTCTCCTGGACAACATTATTATGAGACATGGGGGTAGTGGCGCCTTATGGAGAGCAAAGAGAGGCAGGGTCCCAGGGTCAGCTCCTCCTCCACCCTTGAAGGAGCCAGAGGGTGGCAAGTGCTCCTGCAGCCCGGCACCAGACACCCAGCTTCCTCCCAGCTGCTTGTCCTACCTGCCTCCGTCTCTCCCCAGACCACACATCTAAGAGTCTACACAGCACATTCCTCTGAGGCAGAGGTACCTGGCCCTTCGTCATAAACAGATGCCCATGAAAGCCAGAAAGGATAACAGGAAAGAAACACCCCAAGGCAGGATTATAAACTCCTGAGACTGTTTACATGTGCTTTGTGGAATCTGTTTCATTAATTGTGATCACATTTATATTTTCCTTGGCCTCACTGTCACCTAGCACTTTGTAGTACTTTGCAAAATAGTAGTACTTTGCCTCTGTGATCTCCTTTGTTTTCACAATGACCGTGAGAGATGGGAAGGTCAGATGTTAGTACCCCCATATTACCGATGAGAAAACCGAGGCTCATGGAGGTTAAGTGACTTGTCAGGTAGCTGGTGGCCAACCTGCACTAGAACCTCAGCCTCTGACTCAAGGCTCAGATGTGGCAAACATCCCTCCCTTCATAGACCTGCCTGGACAGGCCACAGGAGCACTTTCACTAGTGCTGTTACTGTGATTCACCTTGTCCAGGTGCCAGGACCGGCTCTTTCCTACACCCTCTGTAGTGAAAGGGATCCGTGCTGAACAAATACCGTGCTGGTGGAAGGACAAAGACACTCACATTCCTTGGTGTTGGGGGGTGCCAGGAGGCAGGAGTAGCAGACCATGCCATAGATGTTCCTCGGTCTGTTCTCCAGCATGTAGTAGCTACGGGGGAGAGACAAGACAAAACAGAGACAGGTGAGCTGGACAGCACACAGGCAGGGACTGGTGCAGAGAGCACGGTGGCCAGTCTGCAGGCCCACAATCAAGTCGGGCATGAGGCCACGCCCACTCAGTCACCTGCTCTGTCCACTCAGTTTCCTTGGGGTTTCAGCCTGTCTTGAAATGGAGCATTCTTTTAACAATATTGAGCTGCCAACGTGGGCCTTTCTTTTGATCTCAGCCCCTTTCTGGTTCCTCTCTCTGGTGGCTGTGTTTAGTGTGTGTGCCATCACATCATCCACCAGAAATATCCCTGTGCCCCCACATGTAGGGCCTGCTTAGCCCCCCAGGGGTCACACCAACCAAGGCCAGACCTTCCTGGAGGAGGAACATGCCCTCTGTGAGCACCCTCCCCAGAGCCTGCAGCCTAGTGGGATTATAGGCATCAGTGTGCCTCTGGGACCCTTGGAACTCCCAAGCCATCTTTACTGCTGCTGAATGCCACCAGAGTGCAGCTGCAGGAGACAGACGGTTGTGCTGTCCAGAGAGGTCAATGCAGGTGGCCCTCATGATAGCTGGCAACACAACCAGGTTGTAAGTGCCTCCTTCTCAGAAAGCACTTGACAGAAGACACCCTTGGAAGTGCAAGCCTTTACGCTGGGGCTGCACACACAGTGCAAGGGACAAATCATTCACAGTAGCTCTGTTTGAAGTCCTTCAGCTCCCAGTGATGTTCCATTATGTCTTTCAGCTCCCCGATGTCACAGTGCCAGCCCCGTGGCTATATGACTGCTCAGGTCCTGCTCTCAGGGGTCTGCCCTGTGGCTGTGCTCCCTGCAGCCGTCCCGCTCCCAGGCACAGCCCCTGCTGGCACCACCCTCTCCTTGGGGCTCCCAGCTCGGGCGCCTTCCCTCTGCAGGCTCTAGCTCCTATCCTAGCCTGGGCCCATTTTCCATAAACAAATGCTCAGCGGAGAGCATGGAGCCATTTGTCACACTGTGAGTAGTCGATTAAATAACGTGAGCGGTGCCAACACTTTCCCTATTGCGATTCAAGAACTGGGATGAGAAGGAATATTTCCATGGCTGCTTTCTAATCTCTTTTTTATTAGCCAGGCCCCATGGAGGCCCCTGCTGACGGTAGTGCTAAGCAGCAGCCTGGCACGGGGGTCTGTGGGCTCCTGCCTTCCTGAGCCTGGACTGTTACCAGTAATGTTAGGACCATAATTGCCTGCCCTCCCTCAAAGCCCTTTATCCTCAGATCCCTGTGTATCTTGTAAACATTAATTAACCAATCTCAAAACACCTCCCAGAGAAGCCACGACAGCCAGTTTTACAGCTAAGCCTCTCGCAAATCTACCTTCTGCCCTCCAGAAGCCACTTCTTTCTATGAGGCAGGCCAAGGCAGGTGTCTGCCACGTGGCCTTGTGAGTTCACGGGCATGTGGGCCAGACCAGGTCAACCTGCAGCTTTCTAACGTCCCTGGCCCACGCTGACACTTCTGAGAAACATCTCAGGCTCCTAGGTGGCCACCTGCTCCCCATCTCACCTCCTCTGTGCCTCACTTCCTCGCCCTTGCCTCCTCCACCTTTTCTCACTCTACCTCCACGCATTCTCTCTCCCACCTAGGGGGATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTCTATTCCTTGGACCTTGTGCTAGGTACTAAGGAAGGATGATTGTCTGTAAACATTGGCTGAATGAATGAATGACACCAAGTTCTTCTCCGTGGAACTTTGATGCTGAGGTGGACAGAGGCCCCAAAAGGCCTCTCTGCCCATCCTAGTTCACACCCCAGGTGCCGGGCTTGGTCTCTGTCATGGGTAAAGCTCCAAGGCTACACGGCGGATGCACAACACCCGGCTTTATGATGGGTGCCCAATGGGGCCACTACATTTTGAG
GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAGAGATCTCTGGATTGAGACCAGGGCAGGCCCAGGGGTGGAGGGCATCACTCTGTTTGGCATTCACACCGAGGCCCTAACCCAGAGGGCTCCATCCACCCCAAGGCCTATCTGGCCGCATCTCCCCATTTCCCAGATGGGCAAGCCGAGGTCTGGGGCCTTGCCCAAGGGGCCTCTAATGGGAACACAGCAGGACTGTCTATTTCTCTGCTGACCTCCTTCAGGGCCGGATTCTAAGGCCCTACCCCGAGGCTTTCCTCGGAGCCGGCTTTCAGTAAAGCAGGCAAGGGCTGGGGGTGGGAGTGGGGTGCGCTCATCTTTAAAATCTTGAGGACTCAGGGGACTTTGCTTGCTTTCCACATGTGATAGACCTCATTGCTGGACTTAGAGAGGCGCCCCTGCCGTGACTCAAGTCTGCTCTGGCTGCCAGACATTGAACATTGAAGGCTGTGCCATGTGAGAACTCTTGAACAGAAAAGCCCCTGAGGAGGACTGCTCCTCTCCCAGGTTCCACAGGCAAAGATGCTTTTGTGAATAGGTGGGGAGTGTCTGACATCTTTCCAGACTGGTTCTTCAACCCAGAATGATCTGGCCTTGAATCAGCCTAGATCCCCACAGAGGACATGCGGGCCATGGCAGCTGGCTTCACCATGAGTCAGGCTGGCAGCCGAGCTGCGGCCTCCTCTAATTTGTGAATTAATTAGCATATGGCTGGCCAGGAAAATGGCTTTGAAGACGAGCAAACACATTGGTGCAGGGCTCATGCATTGCTCCTCCTGCAGCACAGCCCACAGCACAGAACCCTCCTCCTGGCTTGACCAAAAGGAGAGAGGAGATGCTGCGCCCCATTCCTGCTCCTCCCCTTCTTTCCAGCGTGATAAGACGCAGGCTCTCCTTCTTCTCCTGGACAACATTATTATGAGACATGGGGGTAGTGGCGCCTTATGGAGAGCAAAGAGAGGCAGGGTCCCAGGGTCAGCTCCTCCTCCACCCTTGAAGGAGCCAGAGGGTGGCAAGTGCTCCTGCAGCCCGGCACCAGACACCCAGCTTCCTCCCAGCTGCTTGTCCTACCTGCCTCCGTCTCTCCCCAGACCACACATCTAAGAGTCTACACAGCACATTCCTCTGAGGCAGAGGTACCTGGCCCTTCGTCATAAACAGATGCCCATGAAAGCCAGAAAGGATAACAGGAAAGAAACACCCCAAGGCAGGATTATAAACTCCTGAGACTGTTTACATGTGCTTTGTGGAATCTGTTTCATTAATTGTGATCACATTTATATTTTCCTTGGCCTCACTGTCACCTAGCACTTTGTAGTACTTTGCAAAATAGTAGTACTTTGCCTCTGTGATCTCCTTTGTTTTCACAATGACCGTGAGAGATGGGAAGGTCAGATGTTAGTACCCCCATATTACCGATGAGAAAACCGAGGCTCATGGAGGTTAAGTGACTTGTCAGGTAGCTGGTGGCCAACCTGCACTAGAACCTCAGCCTCTGACTCAAGGCTCAGATGTGGCAAACATCCCTCCCTTCATAGACCTGCCTGGACAGGCCACAGGAGCACTTTCACTAGTGCTGTTACTGTGATTCACCTTGTCCAGGTGCCAGGACCGGCTCTTTCCTACACCCTCTGTAGTGAAAGGGATCCGTGCTGAACAAATACCGTGCTGGTGGAAGGACAAAGACACTCACATTCCTTGGTGTTGGGGGGTGCCAGGAGGCAGGAGTAGTAGACCATGCCATAGATGTTCCTCGGTCTGTTCTCCAGCATGTAGTAGCTACGGGGGAGAGACAAGACAAAACAGAGACAGGTGAGCTGGACAGCACACAGGCAGGGACTGGTGCAGAGAGCACGGTGGCCAGTCTGCAGGCCCACAATCAAGTCGGGCATGAGGCCACGCCCACTCAGTCACCTGCTCTGTCCACTCAGTTTCCTTGGGGTTTCAGCCTGTCTTGAAATGGAGCATTCTTTTAACAATATTGAGCTGCCAACGTGGGCCTTTCTTTTGATCTCAGCCCCTTTCTGGTTCCTCTCTCTGGTGGCTGTGTTTAGTGTGTGTGCCATCACATCATCCACCAGAAATATCCCTGTGCCCCCACATGTAGGGCCTGCTTAGCCCCCCAGGGGTCACACCAACCAAGGCCAGACCTTCCTGGAGGAGGAACATGCCCTCTGTGAGCACCCTCCCCAGAGCCTGCAGCCTAGTGGGATTATAGGCATCAGTGTGCCTCTGGGACCCTTGGAACTCCCAAGCCATCTTTACTGCTGCTGAATGCCACCAGAGTGCAGCTGCAGGAGACAGACGGTTGTGCTGTCCAGAGAGGTCAATGCAGGTGGCCCTCATGATAGCTGGCAACACAACCAGGTTGTAAGTGCCTCCTTCTCAGAAAGCACTTGACAGAAGACACCCTTGGAAGTGCAAGCCTTTACGCTGGGGCTGCACACACAGTGCAAGGGACAAATCATTCACAGTAGCTCTGTTTGAAGTCCTTCAGCTCCCAGTGATGTTCCATTATGTCTTTCAGCTCCCCGATGTCACAGTGCCAGCCCCGTGGCTATATGACTGCTCAGGTCCTGCTCTCAGGGGTCTGCCCTGTGGCTGTGCTCCCTGCAGCCGTCCCGCTCCCAGGCACAGCCCCTGCTGGCACCACCCTCTCCTTGGGGCTCCCAGCTCGGGCGCCTTCCCTCTGCAGGCTCTAGCTCCTATCCTAGCCTGGGCCCATTTTCCATAAACAAATGCTCAGCGGAGAGCATGGAGCCATTTGTCACACTGTGAGTAGTCGATTAAATAACGTGAGCGGTGCCAACACTTTCCCTATTGCGATTCAAGAACTGGGATGAGAAGGAATATTTCCATGGCTGCTTTCTAATCTCTTTTTTATTAGCCAGGCCCCATGGAGGCCCCTGCTGACGGTAGTGCTAAGCAGCAGCCTGGCACGGGGGTCTGTGGGCTCCTGCCTTCCTGAGCCTGGACTGTTACCAGTAATGTTAGGACCATAATTGCCTGCCCTCCCTCAAAGCCCTTTATCCTCAGATCCCTGTGTATCTTGTAAACATTAATTAACCAATCTCAAAACACCTCCCAGAGAAGCCACGACAGCCAGTTTTACAGCTAAGCCTCTCGCAAATCTACCTTCTGCCCTCCAGAAGCCACTTCTTTCTATGAGGCAGGCCAAGGCAGGTGTCTGCCACGTGGCCTTGTGAGTTCACGGGCATGTGGGCCAGACCAGGTCAACCTGCAGCTTTCTAACGTCCCTGGCCCACGCTGACACTTCTGAGAAACATCTCAGGCTCCTAGGTGGCCACCTGCTCCCCATCTCACCTCCTCTGTGCCTCACTTCCTCGCCCTTGCCTCCTCCACCTTTTCTCACTCTACCTCCACGCATTCTCTCTCCCACCTAGGGGGATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTCTATTCCTTGGACCTTGTGCTAGGTACTAAGGAAGGATGATTGTCTGTAAACATTGGCTGAATGAATGAATGACACCAAGTTCTTCTCCGTGGAACTTTGATGCTGAGGTGGACAGAGGCCCCAAAAGGCCTCTCTGCCCATCCTAGTTCACACCCCAGGTGCCGGGCTTGGTCTCTGTCATGGGTAAAGCTCCAAGGCTACACGGCGGATGCACAACACCCGGCTTTATGATGGGTGCCCAATGGGGCCACTACATTTTGAG
Task1_train_3939
Here is a variant affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Oligodontia
CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGC
CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCATACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGC
Task1_train_3940
Consider this mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCAC
ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGGCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCAC
Task1_train_3941
The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCTGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
Task1_train_3942
This mutation is located in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCTGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
Task1_train_3943
Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTC
CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCAGAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTC
Task1_train_3944
Assess the clinical impact of this variant on gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
Task1_train_3945
Given this variant in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
Task1_train_3946
A change on Chromosome 2 affects gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
Task1_train_3947
This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACACCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
Task1_train_3948
A mutation found in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACACCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
Task1_train_3949
With a mutation on Chromosome 2 in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; not provided
AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGC
AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGTAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGC
Task1_train_3950
This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inborn genetic diseases
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
Task1_train_3951
A genetic alteration is present in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
Task1_train_3952
Here’s a variant in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
Task1_train_3953
Here is a mutation in NPHP1 (nephrocystin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Joubert syndrome with renal defect
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3954
A variant was discovered in gene NPHP1 (nephrocystin 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Nephronophthisis 1
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3955
Gene NPHP1 (nephrocystin 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Joubert syndrome with renal defect
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3956
Given a variant located on Chromosome 2 and affecting NPHP1 (nephrocystin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Senior-Loken syndrome 1
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3957
A variant found in Chromosome 2 affects NPHP1 (nephrocystin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; NPHP1-related disorder
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3958
This variant lies on Chromosome 2 and affects the gene NPHP1 (nephrocystin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Retinal dystrophy
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3959
Here’s a variant in NPHP1 (nephrocystin 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Inborn genetic diseases
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3960
Mutation context: Chromosome 2, Gene NPHP1 (nephrocystin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Nephronophthisis
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
Task1_train_3961
Here’s a variant in BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Colorectal cancer with chromosomal instability, somatic
GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAAATCTAGCCACACTCAAAAGGAGATGAATTAAACTGGAGGAAAAAAATTCAAAGAATTTGTGGATAAATGTGAAACCACCACAGTAATGAATATTAATAAATAATTTTGGTAGGACACTTGGAAAATATGCACATACCCTGTTTCTTCTTGAATAATTATTAAATAATGTCCTAAAAGAAACATATTCTTCCTATGTTTCATAGTTTTTAGCATAGTTTCACATACACAATATCCTCTGACTGGCATAATCATTTGGTAGAATAAAGCGGATGGGTTGTAGGACCCATTTCATAGATAAAACAGGTTTGTTTACCTTTGGTTTTGAAGGAAGTCTGCTGACAGAGCGTTCTCCAAAGGTCCTGGCTCCTGTGGGTTTATTTTTAGGCTGTGGTAATCTAAGGAAAGATTTGCTAAATTATAAATAGTAAAATATGCTAAGGAAATAAATGCTATCACTTGACCATTAGAAAAGTTCTCTACTTATCCTATTTAATGAGTTAATCTTTATATAGATATTCCTTGCTTTTATAGCAGTTCTAGCAAAACTGAGTGTAATCAAATTAACATGACTTATAAAAGTAGACCTATCATTACTTGAGGGTGGGAAGTACAGAAATTTCTGTCACATAACTTTTAGAAGCCAAAAATGAATTCCTGCAGTACTGTAAATCTGGAGAACTTTGGCAACACCCCCCTGGTTGTGTGGTCAAAAGGCTCATTTGACCATGTGATTGGCAGTTCACATTCTCTCCTCACCACCCCACCACCTCTGGTCCCAGAGAAAACTCGGCAGCATCCCATTAACTAGATGGTATTTTTTTACCCATAATTTTCTTTGTTTCCATCTTCAAACACATGAAAAGCAGATGACAAAGAAGAGATGATCTTATTGACTCCCCAAGCCCCAGATGACCTTACATTTTCTGCAACAGAATAAAAAATAGCATCTAATTATTGTACTAGGAAAAAACATCCTTTATATTAAACTTCAACTACAAATAAGAAAAAGGACTAACAGCTGACAGAAAAGAACTAATATCAGCTTTTCAAATACTAGGCAGTAAGTCACTATAGTGAGATGAAGTGACTTAACTATGGTAACAGGGTTTTGTACTCAAGTCCCAGGTCACGAGTCCCTGCCACATATCAGCAAGGTGTTAATCATTCTCCTAAATCAGTACTATTGTCACCTGACTCACTCAATAAACGCTCTCAGGGTTTCGTTTTCCATTTCCTTCAAGAAAGAATTAAGCTCTTAGCTTTACATTTCAAGTCCTCCTGAGTCTAATTGGCTTCTACTTATCTTTATCATGATCTCTGGCTTCTAGCATGAATCCCCTGACTCTAGACAAATGTGGGCTAGCTGCCAGCCTCCTCTAATACTCTGCCCCAGCCATTCCTCTACCAGTGAAGGCTCAAGTCACACCTTGAGTACTCAGCCCTTCTTATCCATGGGGGTTTTGTCCTTCTTTAGCACTATTCTTTTTTTTTTTTTCCCTTTAATCAAGCAAATCTATCACACACATTGAGTACCTTGTCAAGAACTGTCTTATTTTTATTTCATGCATTCCCTGCCTTTATGTGACAAGCTAATCAAGGGCAGGGTCACCTCTTAAATAATTCTTGATATTTTCTGTGATAACCACCTATAATGCTATGCACTTAGTAGCTTTTAAATAGTTATTACTTTGAAACTGGGCTTCAAATGCATCTTCATTTTGATCTAGAGATTGCCATTCATCTTTGTCATCAGAAATATCAGGAAGTGTAGGAGCCTGAAACATATTCATGATGAAACCTTAAAGAACAAAAAGAATAATTGTAAACAGGTTGCAAAAGAGCTTTCATTAACTTGTCATCAGGTGCTACACACTCAGATAAAATACTTTACCTAATGCTTCTTTTGTGTGCACGGTGGGTGATGGCTGCACTTTGGATGGCGTTGCCTGAACCATTCCCAGTGATGTGTTTGGAGTTGTGTGAAAAGAACTTGTGTTGGCAACCTTATGTGTTTCACACCCTAGCAAAGAAATGGAGACAAAATGTGGTATCAGTAGGGAAATCAGAATAACTTAAAAGACACACAATTTAAGTAAGTTACAATTAAAACAGTTTGTCATTGTTAAAAATTATCACTAAGAATTTCCAGTATTATAGTGCTTTCATATATTTCATTTTTATCTTTATAATAGTCCTATGAAGTAAATGAGGTGAAAATTATCCTTTTACAGAAAAGGAAATGAAGGCTGAGAGAGATTGAGTGGTTGGTCTGGATTATACCAGATTAGCAACTTTGTCATAAATTATACCCTTAGTGCCACTGTATCCCAAGTTCATAGTCACAATGTAAATCTTAAGATTGGCTTCCCATCTCATTCCACTGCAGTCAGGCATAGAATACAAGGCCCTGCACAGCCTGGGTCCTGTTTGGTCAGGCCTCACCTTCCTCCTCTCCCTGCTTACCTCCCCACATTGGTCCCTTTGCTGTGCTTAGAATATATCAGAGATTTTCCTGCTTGAGGGCTTAGCACTTAATATTCCCTCTGTCTGAAAAGTTGCCCAAGCTAATGGCATGGTAGCTCCCTAACTTTAGCCCTTTACCCAAATATCACCTTGACTGAAATTTCAACCCCATAACTCCAATAGTACATTTCTTTCCCCCTCTGTGTGGGTGGAGATTTTTTGTTCATGACTTCATCCCTAACTATGTATAACAGTGCCTGGCACCTACAGAGCAGGCTCAGTAAGTCTTGGTTCAGTTAATGAACCTCCAGCTATTTCAAACAGCCCTCCTCCTCACCAAACTGTCCAGAAAAAAAATGTCCCAGTCACACAGCGGAGAAGTGAAAGCCCAACCTGTGCATCTTATTATTTATAAGACTTATCTCCTATGCAAATGCCTCTAACAAAGTAGTACCGAATAACAGTGTAACACTCCTAATTAAACTTTTGATAACCTTTCCTACCTAACATACTAAAGATGACTCTGTTTTGGATTAATTTCCTGAGAAATTTACTAGAAATGTATTCACAAATTACATTTCCAAAGAATGTTAAAGAAGATGAGACTAACAAGTGGATTTCTACATTTATTTGAAATGGTTCAGGGATAAATAACCTATACTCTAAGAATAGGAAATCTAACACTCAGGTTCATTAAGGCCTGAAGCCTTCATAAACCACAGCCACAAAATACACCTCTGAGTGATACAGAGGAATCTGGACAGAAACACATTTATTATAATTAAACATTACCTTCTTTGATCTCTGCTCCACTCTGTGGCTTGAATTCATGAGTACTCTTATTCACACATCTGGAAGAGAAAACTCTTGAGACACACTAGAGAATAAAATGCTTGATCTAGGCTGGGTGCGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTACTAAAAATACAAAAAAACATTAGCGGGGTGTGCTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAACAAAAAAAAAACAAAACAAAAAAATGCTTGATCTATTAGAATTTTTAACTGACTCTCAAGAAATAATAGTAGAAAGAAAAAAGAATCAGTCAATAATTACAAGCCTGTTAAAATACAG
GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAAATCTAGCCACACTCAAAAGGAGATGAATTAAACTGGAGGAAAAAAATTCAAAGAATTTGTGGATAAATGTGAAACCACCACAGTAATGAATATTAATAAATAATTTTGGTAGGACACTTGGAAAATATGCACATACCCTGTTTCTTCTTGAATAATTATTAAATAATGTCCTAAAAGAAACATATTCTTCCTATGTTTCATAGTTTTTAGCATAGTTTCACATACACAATATCCTCTGACTGGCATAATCATTTGGTAGAATAAAGCGGATGGGTTGTAGGACCCATTTCATAGATAAAACAGGTTTGTTTACCTTTGGTTTTGAAGGAAGTCTGCTGACAGAGCGTTCTCCAAAGGTCCTGGCTCCTGTGGGTTTATTTTTAGGCTGTGGTAATCTAAGGAAAGATTTGCTAAATTATAAATAGTAAAATATGCTAAGGAAATAAATGCTATCACTTGACCATTAGAAAAGTTCTCTACTTATCCTATTTAATGAGTTAATCTTTATATAGATATTCCTTGCTTTTATAGCAGTTCTAGCAAAACTGAGTGTAATCAAATTAACATGACTTATAAAAGTAGACCTATCATTACTTGAGGGTGGGAAGTACAGAAATTTCTGTCACATAACTTTTAGAAGCCAAAAATGAATTCCTGCAGTACTGTAAATCTGGAGAACTTTGGCAACACCCCCCTGGTTGTGTGGTCAAAAGGCTCATTTGACCATGTGATTGGCAGTTCACATTCTCTCCTCACCACCCCACCACCTCTGGTCCCAGAGAAAACTCGGCAGCATCCCATTAACTAGATGGTATTTTTTTACCCATAATTTTCTTTGTTTCCATCTTCAAACACATGAAAAGCAGATGACAAAGAAGAGATGATCTTATTGACTCCCCAAGCCCCAGATGACCTTACATTTTCTGCAACAGAATAAAAAATAGCATCTAATTATTGTACTAGGAAAAAACATCCTTTATATTAAACTTCAACTACAAATAAGAAAAAGGACTAACAGCTGACAGAAAAGAACTAATATCAGCTTTTCAAATACTAGGCAGTAAGTCACTATAGTGAGATGAAGTGACTTAACTATGGTAACAGGGTTTTGTACTCAAGTCCCAGGTCACGAGTCCCTGCCACATATCAGCAAGGTGTTAATCATTCTCCTAAATCAGTACTATTGTCACCTGACTCACTCAATAAACGCTCTCAGGGTTTCGTTTTCCATTTCCTTCAAGAAAGAATTAAGCTCTTAGCTTTACATTTCAAGTCCTCCTGAGTCTAATTGGCTTCTACTTATCTTTATCATGATCTCTGGCTTCTAGCATGAATCCCCTGACTCTAGACAAATGTGGGCTAGCTGCCAGCCTCCTCTAATACTCTGCCCCAGCCATTCCTCTACCAGTGAAGGCTCAAGTCACACCTTGAGTACTCAGCCCTTCTTATCCATGGGGGTTTTGTCCTTCTTTAGCACTATTCTTTTTTTTTTTTTCCCTTTAATCAAGCAAATCTATCACACACATTGAGTACCTTGTCAAGAACTGTCTTATTTTTATTTCATGCATTCCCTGCCTTTATGTGACAAGCTAATCAAGGGCAGGGTCACCTCTTAAATAATTCTTGATATTTTCTGTGATAACCACCTATAATGCTATGCACTTAGTAGCTTTTAAATAGTTATTACTTTGAAACTGGGCTTCAAATGCATCTTCATTTTGATCTAGATATTGCCATTCATCTTTGTCATCAGAAATATCAGGAAGTGTAGGAGCCTGAAACATATTCATGATGAAACCTTAAAGAACAAAAAGAATAATTGTAAACAGGTTGCAAAAGAGCTTTCATTAACTTGTCATCAGGTGCTACACACTCAGATAAAATACTTTACCTAATGCTTCTTTTGTGTGCACGGTGGGTGATGGCTGCACTTTGGATGGCGTTGCCTGAACCATTCCCAGTGATGTGTTTGGAGTTGTGTGAAAAGAACTTGTGTTGGCAACCTTATGTGTTTCACACCCTAGCAAAGAAATGGAGACAAAATGTGGTATCAGTAGGGAAATCAGAATAACTTAAAAGACACACAATTTAAGTAAGTTACAATTAAAACAGTTTGTCATTGTTAAAAATTATCACTAAGAATTTCCAGTATTATAGTGCTTTCATATATTTCATTTTTATCTTTATAATAGTCCTATGAAGTAAATGAGGTGAAAATTATCCTTTTACAGAAAAGGAAATGAAGGCTGAGAGAGATTGAGTGGTTGGTCTGGATTATACCAGATTAGCAACTTTGTCATAAATTATACCCTTAGTGCCACTGTATCCCAAGTTCATAGTCACAATGTAAATCTTAAGATTGGCTTCCCATCTCATTCCACTGCAGTCAGGCATAGAATACAAGGCCCTGCACAGCCTGGGTCCTGTTTGGTCAGGCCTCACCTTCCTCCTCTCCCTGCTTACCTCCCCACATTGGTCCCTTTGCTGTGCTTAGAATATATCAGAGATTTTCCTGCTTGAGGGCTTAGCACTTAATATTCCCTCTGTCTGAAAAGTTGCCCAAGCTAATGGCATGGTAGCTCCCTAACTTTAGCCCTTTACCCAAATATCACCTTGACTGAAATTTCAACCCCATAACTCCAATAGTACATTTCTTTCCCCCTCTGTGTGGGTGGAGATTTTTTGTTCATGACTTCATCCCTAACTATGTATAACAGTGCCTGGCACCTACAGAGCAGGCTCAGTAAGTCTTGGTTCAGTTAATGAACCTCCAGCTATTTCAAACAGCCCTCCTCCTCACCAAACTGTCCAGAAAAAAAATGTCCCAGTCACACAGCGGAGAAGTGAAAGCCCAACCTGTGCATCTTATTATTTATAAGACTTATCTCCTATGCAAATGCCTCTAACAAAGTAGTACCGAATAACAGTGTAACACTCCTAATTAAACTTTTGATAACCTTTCCTACCTAACATACTAAAGATGACTCTGTTTTGGATTAATTTCCTGAGAAATTTACTAGAAATGTATTCACAAATTACATTTCCAAAGAATGTTAAAGAAGATGAGACTAACAAGTGGATTTCTACATTTATTTGAAATGGTTCAGGGATAAATAACCTATACTCTAAGAATAGGAAATCTAACACTCAGGTTCATTAAGGCCTGAAGCCTTCATAAACCACAGCCACAAAATACACCTCTGAGTGATACAGAGGAATCTGGACAGAAACACATTTATTATAATTAAACATTACCTTCTTTGATCTCTGCTCCACTCTGTGGCTTGAATTCATGAGTACTCTTATTCACACATCTGGAAGAGAAAACTCTTGAGACACACTAGAGAATAAAATGCTTGATCTAGGCTGGGTGCGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTACTAAAAATACAAAAAAACATTAGCGGGGTGTGCTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAACAAAAAAAAAACAAAACAAAAAAATGCTTGATCTATTAGAATTTTTAACTGACTCTCAAGAAATAATAGTAGAAAGAAAAAAGAATCAGTCAATAATTACAAGCCTGTTAAAATACAG
Task1_train_3962
Given this variant in gene BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGTTCAGTCTCTCATAACAGAAATTCACTTCGCTGAGAAACAATTCTTCACTCATCAGATTGGCAAAACTAAAAAACATGTGAAAAGATTGTGTAGGTGCAGCAATAAGAAACAGGCTCTCTGTCGCATCTTGCTTGTAGGTGGGCATGTGCTCAATTCCTGCCAAGGGAATTATCTACCAAAACTGGACTGATTTGCTTTTGATCCAACAAACCGCTTCTGCAGATCTAGAAGACACATACACATGTGTATCCGCAAAATGTTATGTACAAGATTTTTCACCGTGCCACTATTTGAAACAGATTGTCAACAACCTGTGTTGACTGCTTAGATCAATTAGGGTACATGAAGTATTACACAGCTGTAAAAAAAGAATAAGAAAGAACTTTATGTATTGGTAGAGATCTCCAGGGATATTGTTAGGCAAAAGAGCAGCGTATATATATACTGTTATATTTTATGTGTGGTAAAGGCAAAAAATGTATACAAACGTGCAGACATTTAATATATTATAATAATGTAAATATTTATATTTCCAAAAAGAAACTAGAAAAACGGTTACATGTGACAGAGTGGGACAGTAGTCAGGTACAGGAGTTCTCGGTAAATACTGTTCTAAATCTTCTTTTAGTCATATAAACGCATTGCTTATTTTTAAAACTAAAAAAAATAATAATTCTGAAGTTTGAATGTCTCTCATGTCTTATAGCAGAGGGACAAATCCCTATTTCAGAACCTTTCTTCCAAAATATGTCTAGTAGGCTCGCCCAAGGTAAACATTTCATATTCTAACACCAACCACATTTCTCTAGTAAAATGACCTAAATGCACTGTAATAGTAAAACATCCAGTTCATTAAAGCACATTAATCTTTAGTAAGTCAAAACAGGACCAGGAATATCTGCTTTACCTTTAAAAAAGGGGCGGGGGACTTCTGAAAGAAAATAATTTGCTGGCTAGGTTGAAGGTTACAGAAAAAGTCTTAGAGCAAATGGATTTTTGTTTTGACTGCATTTAACAATCTCGGTCTTCTGATCGCAAAGAACTGATAAAACGGACCAGTTTTACTTCCTGAACCTATGACTTAATTGTTTTAAATGCCTTTAAGTAACAGTCTGGGTAAATCATCTAAGTCATAAAACAAAGGCGTGGGAACTTTAAGTAAAAAGTGAGTGATGTTAGCAGGTTGGCACACATCACTCAATAATGAGCAAAGCTATTTTTTTTCAATTTTTTTTTCTTAAAGTACCCTGTATTCAAAGACTTTTAAAAAATAGCAGTGAGATTATGGATAGGAGAGCAACTTTAAATTCGTTCCCTACTGTAGTCGAATTGTTAAATACGTGACTTTGAAAACGTATCACAAAATCTAAACACAAGGTTCAGGATTTTTGTTAGGTTGAACTGTCAGGAGGGGATTCCTTACAAAGAATAAACGAGAGCTCTGAGGGCCTAACGAATTATCCAGATTGCTCCAAACGGCCACCGCGGCGCAGATGGGCGGACAAGCGCCGGGCCTCAGCGGAACCCAAGGTGCCGGAGCCCTCCCCGGCTCTCAAGCAGCCCACGGCCTTGCTGGGTGGGACACATTCCAAACCCAGGAAGGGGGCGAAGGGGGCAAAAGAAGGCAGGTCTGGGGCGGGCCGGGCCCGAACCCCAGGCGCCCCAGCCCCCTGGGCTTCCCCACCCCACCAGACGGACACTTACTGAAGGACATTTTCCGGGGTGTCCATGGCCAGAGGACGCTGGCCGGCAGCGGCCAAACCTGAACCGCAAACTAGAAGCCGCCGCCGATTCGAATACCCCGCGCAGCCGCAGTCGGCTCGCCGAACGTTTCAGGGCGCCTGCCCATTGGTGGCGGCGGCAGAAGGTTGGCCAATCACCGGGGCCGTTGCTCGGAGGTCAAGTCCCACCTCCCTCCCTTGAGCCAGTAGCTCCTCCCACTTCCCGTGGTTTTCGGTTGAACCGAAACCTGGCCGTTGGCTGAGCGAGCGCGGGGTGTTTGGGATGCGGCACGGCGAGGGGGAGCAGGCTTGGCTCGGGCGTAGGGAATTGGTTTTTTTGTTTTAGCTATCCAGGTTGTGACTGGTTTACATAATTACACGATTAAGCCATCATTGTAGGAAAGGCTTTGCAGGAGAAAAATGTCTTAACTGGAGGTCTTTGAGACAGAAAAACCCTGCCTCAGCCCTTGGGTCCTGAGAGTCGCGTTTCTTCTCCCCTTCGCTTAAATATGTAAACCAGAATCATTATGTTTGGTTCATGGAACGGAGGAAAAAAATCCGTGTGCAGGGTCGAGACTGTCGTGGCGGAAGCCGCAGCACCCGGGAGGCAGGTGGGGAGAAAAAACGGGACCTGCTGCCGGGGACCCCTCCCGCTTTCTGGCAGTTTTCTATTCAGCGTCCTCGGCTGTGAGAAAACATCCCAGATGCTGAAACCAATAGTCTTAGCCCAGAATCTCAAACGCCGTGGCAAAGAGGGAGTGACGACGGCCTGTGGAAAAACCTGAGGAGTTTTGGGCTTAGCGCCTTCATGTAGAGGGGACGTGGAGGCGGGGAGGGCGTTCTAGGGTCGGCTGCGTAATTATACGAGGCACTGGAAAGTGATGGGTTAGTGTCCTTGGAGTAGACCCCTGGGTTTTATTGAACTGATCTGAAAGGCTGGGCCCTGAGCCACACAGGGGACCTGTCAAACAGCTTCAAGCGGAAGATGGGGCTCACGGGACTGGACTCTCTCTGCAGCCAGCTGTAATTAACACAAAAGCAGAAGAGTTTGGGTAGATTATAGAATGCCAGCTTTGAACATCTTTTGGGGGACAGGGCACTCTGGGAGACCAAGTTCTTAGACACCATAAAATCAAAAATAGACACCTCTTTGTAGAGGAGTCCAGATGTCTAAAGAGGAAATATGTAATAGGCTGATGTTTCTTTTGTTTTTTGTTTGTTTGTTTTTTGAAAAGTTAAAATACTAAGTTTATAAAGTGAAAAAGTTACAGTAAGCTAAGGTTGACTTATTGGAAAAAATGTGCTTATACTATGGAATGAGACCACCACTTCTCCTGTTGTCCCTCCCAGCTTCTTCTCCACCACCTCCCCTTTTCCCTAGTTTATAAGACAGGAGAAAAGTGAGACAGCAAAAAGTTAGAAAGAAACAGAAGTAAGATAAATAGCTAGACGACCTTGGCGCCACCACCCGGCCTTGGTGGTTAAAATAATAATAATAATGTTAACCCCTGACCAAAACTACTTGTGTTATCTGTAAGTTCCAGACATTGTATGAGAAAGCGCTGTAAAACTTTTTGTTCTGTTAGCCGATGCATGTAGCCCCCAGTCACGTTCCCCACGCTTGCTCCATCTATCACAACCGTTTCACATGGACCCCCCCCTTCAAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTTGGGGAGCTCGGCTTTTAAGATGCGAGTCTGCCAACGCTCTCGGCCGAATAAACTTCTTCCTTCTTTAATCCAGTGTCAGGAGTTTTGTCTGCGGCTCGTCCTGCTACAATATGTATATCAAGGGTTTCTTGTTGGTGTCTGACACAGACACAGAACCACTGATGCCCAAGCCAGTGCTCTCTACACACAGAAGCCTCCAACCTCATCTTGAGAAACGGGGCCATGAGGCCACCCCAGACACCGAGGGCTCCATGGAGGCTGGGGGGTCCGTGGGACTGGGCACATCCCAGCGGGTCTTGGATCCTGGCCTTTCCCCTTCTTGATGCCAGGACCTACTGAGTGCTCGCAGGTG
CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGTTCAGTCTCTCATAACAGAAATTCACTTCGCTGAGAAACAATTCTTCACTCATCAGATTGGCAAAACTAAAAAACATGTGAAAAGATTGTGTAGGTGCAGCAATAAGAAACAGGCTCTCTGTCGCATCTTGCTTGTAGGTGGGCATGTGCTCAATTCCTGCCAAGGGAATTATCTACCAAAACTGGACTGATTTGCTTTTGATCCAACAAACCGCTTCTGCAGATCTAGAAGACACATACACATGTGTATCCGCAAAATGTTATGTACAAGATTTTTCACCGTGCCACTATTTGAAACAGATTGTCAACAACCTGTGTTGACTGCTTAGATCAATTAGGGTACATGAAGTATTACACAGCTGTAAAAAAAGAATAAGAAAGAACTTTATGTATTGGTAGAGATCTCCAGGGATATTGTTAGGCAAAAGAGCAGCGTATATATATACTGTTATATTTTATGTGTGGTAAAGGCAAAAAATGTATACAAACGTGCAGACATTTAATATATTATAATAATGTAAATATTTATATTTCCAAAAAGAAACTAGAAAAACGGTTACATGTGACAGAGTGGGACAGTAGTCAGGTACAGGAGTTCTCGGTAAATACTGTTCTAAATCTTCTTTTAGTCATATAAACGCATTGCTTATTTTTAAAACTAAAAAAAATAATAATTCTGAAGTTTGAATGTCTCTCATGTCTTATAGCAGAGGGACAAATCCCTATTTCAGAACCTTTCTTCCAAAATATGTCTAGTAGGCTCGCCCAAGGTAAACATTTCATATTCTAACACCAACCACATTTCTCTAGTAAAATGACCTAAATGCACTGTAATAGTAAAACATCCAGTTCATTAAAGCACATTAATCTTTAGTAAGTCAAAACAGGACCAGGAATATCTGCTTTACCTTTAAAAAAGGGGCGGGGGACTTCTGAAAGAAAATAATTTGCTGGCTAGGTTGAAGGTTACAGAAAAAGTCTTAGAGCAAATGGATTTTTGTTTTGACTGCATTTAACAATCTCGGTCTTCTGATCGCAAAGAACTGATAAAACGGACCAGTTTTACTTCCTGAACCTATGACTTAATTGTTTTAAATGCCTTTAAGTAACAGTCTGGGTAAATCATCTAAGTCATAAAACAAAGGCGTGGGAACTTTAAGTAAAAAGTGAGTGATGTTAGCAGGTTGGCACACATCACTCAATAATGAGCAAAGCTATTTTTTTTCAATTTTTTTTTCTTAAAGTACCCTGTATTCAAAGACTTTTAAAAAATAGCAGTGAGATTATGGATAGGAGAGCAACTTTAAATTCGTTCCCTACTGTAGTCGAATTGTTAAATACGTGACTTTGAAAACGTATCACAAAATCTAAACACAAGGTTCAGGATTTTTGTTAGGTTGAACTGTCAGGAGGGGATTCCTTACAAAGAATAAACGAGAGCTCTGAGGGCCTAACGAATTATCCAGATTGCTCCAAACGGCCACCGCGGCGCAGATGGGCGGACAAGCGCCGGGCCTCAGCGGAACCCAAGGTGCCGGAGCCCTCCCCGGCTCTCAAGCAGCCCACGGCCTTGCTGGGTGGGACACATTCCAAACCCAGGAAGGGGGCGAAGGGGGCAAAAGAAGGCAGGTCTGGGGCGGGCCGGGCCCGAACCCCAGGCGCCCCAGCCCCCTGGGCTTCCCCACCCCACCAGACGGACACTTACTGAAGGACATTTTCCGGGGTGTCCCTGGCCAGAGGACGCTGGCCGGCAGCGGCCAAACCTGAACCGCAAACTAGAAGCCGCCGCCGATTCGAATACCCCGCGCAGCCGCAGTCGGCTCGCCGAACGTTTCAGGGCGCCTGCCCATTGGTGGCGGCGGCAGAAGGTTGGCCAATCACCGGGGCCGTTGCTCGGAGGTCAAGTCCCACCTCCCTCCCTTGAGCCAGTAGCTCCTCCCACTTCCCGTGGTTTTCGGTTGAACCGAAACCTGGCCGTTGGCTGAGCGAGCGCGGGGTGTTTGGGATGCGGCACGGCGAGGGGGAGCAGGCTTGGCTCGGGCGTAGGGAATTGGTTTTTTTGTTTTAGCTATCCAGGTTGTGACTGGTTTACATAATTACACGATTAAGCCATCATTGTAGGAAAGGCTTTGCAGGAGAAAAATGTCTTAACTGGAGGTCTTTGAGACAGAAAAACCCTGCCTCAGCCCTTGGGTCCTGAGAGTCGCGTTTCTTCTCCCCTTCGCTTAAATATGTAAACCAGAATCATTATGTTTGGTTCATGGAACGGAGGAAAAAAATCCGTGTGCAGGGTCGAGACTGTCGTGGCGGAAGCCGCAGCACCCGGGAGGCAGGTGGGGAGAAAAAACGGGACCTGCTGCCGGGGACCCCTCCCGCTTTCTGGCAGTTTTCTATTCAGCGTCCTCGGCTGTGAGAAAACATCCCAGATGCTGAAACCAATAGTCTTAGCCCAGAATCTCAAACGCCGTGGCAAAGAGGGAGTGACGACGGCCTGTGGAAAAACCTGAGGAGTTTTGGGCTTAGCGCCTTCATGTAGAGGGGACGTGGAGGCGGGGAGGGCGTTCTAGGGTCGGCTGCGTAATTATACGAGGCACTGGAAAGTGATGGGTTAGTGTCCTTGGAGTAGACCCCTGGGTTTTATTGAACTGATCTGAAAGGCTGGGCCCTGAGCCACACAGGGGACCTGTCAAACAGCTTCAAGCGGAAGATGGGGCTCACGGGACTGGACTCTCTCTGCAGCCAGCTGTAATTAACACAAAAGCAGAAGAGTTTGGGTAGATTATAGAATGCCAGCTTTGAACATCTTTTGGGGGACAGGGCACTCTGGGAGACCAAGTTCTTAGACACCATAAAATCAAAAATAGACACCTCTTTGTAGAGGAGTCCAGATGTCTAAAGAGGAAATATGTAATAGGCTGATGTTTCTTTTGTTTTTTGTTTGTTTGTTTTTTGAAAAGTTAAAATACTAAGTTTATAAAGTGAAAAAGTTACAGTAAGCTAAGGTTGACTTATTGGAAAAAATGTGCTTATACTATGGAATGAGACCACCACTTCTCCTGTTGTCCCTCCCAGCTTCTTCTCCACCACCTCCCCTTTTCCCTAGTTTATAAGACAGGAGAAAAGTGAGACAGCAAAAAGTTAGAAAGAAACAGAAGTAAGATAAATAGCTAGACGACCTTGGCGCCACCACCCGGCCTTGGTGGTTAAAATAATAATAATAATGTTAACCCCTGACCAAAACTACTTGTGTTATCTGTAAGTTCCAGACATTGTATGAGAAAGCGCTGTAAAACTTTTTGTTCTGTTAGCCGATGCATGTAGCCCCCAGTCACGTTCCCCACGCTTGCTCCATCTATCACAACCGTTTCACATGGACCCCCCCCTTCAAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTTGGGGAGCTCGGCTTTTAAGATGCGAGTCTGCCAACGCTCTCGGCCGAATAAACTTCTTCCTTCTTTAATCCAGTGTCAGGAGTTTTGTCTGCGGCTCGTCCTGCTACAATATGTATATCAAGGGTTTCTTGTTGGTGTCTGACACAGACACAGAACCACTGATGCCCAAGCCAGTGCTCTCTACACACAGAAGCCTCCAACCTCATCTTGAGAAACGGGGCCATGAGGCCACCCCAGACACCGAGGGCTCCATGGAGGCTGGGGGGTCCGTGGGACTGGGCACATCCCAGCGGGTCTTGGATCCTGGCCTTTCCCCTTCTTGATGCCAGGACCTACTGAGTGCTCGCAGGTG
Task1_train_3963
Here is a variant affecting MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Retinal dystrophy
ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGTCTCACATGGCAACAGCAAAGCAATGGAAGGATAGGAGGAGGGGTGATAAAACAGGAAAGAGAAGTTGGGGTCAATGTTTAGGTTCTACAACAAGTAGAATGACTTCACCAGCATGTAATACAAAACCCAACTCAAAATGACTTTCAACGGAGATACAGGATCTCATGCAATAAAGCCCAGAAGTAGCACAGTTCCAGAGTTGGCTAGGTGGGTGCTTGAGGAATTAATTGAGAAATTAAAGGGCTACAATTGCATTTGTAGCCCAAGCTATTAAAACAGCTCCTACACAAGAAGAAGGAGGAGGAGAAGAAAGAATTTTCTTAATTTCATTTTCAGATTATTCATCACTAGTATATAAAAATACAGTTGATTTTTGTATGTCCATCTTGTATCCTACAACCTTGCTGAACTCATTTATTAATTCTGCTATACAATTATTTTTTAAGTGACTTTTGGTCACAGTCTCCAGGAATAACAGAAGTGTTCTAGGAAAAAACAGCACAAATGAATAGTACCTGATACTCATTACATCTTCATGAATGACAGCAAGATGCAATATTTCTTATGACCCAAATCCTTTCCTGGAAATCAGTATCTAGAAAACCAAATACCCAAATAATACAGAATAGAGGCATAAAACTTCCATACTTAAAGATTAAGACATTTCATTTATTTATACAGTATGTAATTGACATGTGTCTTGGAGTATAAAATCATTGAAAATGCAATGTCTTTCCAAAATGAGTACCATTTTGGAAAACTCATGTTTGGAAAGGAAGCCATGGCAAATTCAGTGCCTTGGGGAGGGTACATAATGGATGGACCCATTCATGACTGCCAGGGACTTGTGCAAATCCTTTTCTGCAGGGCCATGATTGCACTAAAACACTTAATTACTACATGGAAGTTTTATCAGCAGTCATCCTCATAACTGATTCCAACAGTGGCTGGTTTTCTAACACAGCAATCTAGTTTGATTTTTATAAGCTAGAGAAAACACTAGACTGTTGAAACTTATAGGCAGGGCCTACGGGAGCAAAATGAAAATTCCTGAATATGTACTTGTGGTGCTTTGGTCCTGTGATAATTGGTGAAGACTCTCCTAATTTCTGTTTAGAAGAAACGAGTATCTTTCAAAACATTTCGTAGTAAAATGGTAGCAGATAGGGGTGCCTAATTGGAAACAGCTCATCCTAAGTGGACTTTTCCCCTCCGAAACATTAGACCCCTGACACACACACACACACACACCTCGCCGCTGCTGAAGCCAGACCACCTGTCCCTTTCCCTCCTCTGTGCAATGCGTGTGCTCTGTCCCACTCTGAAGGATACACGGAAGGATCACGTTTGACCTCATACCTTCTAAAAAGAAACAATGTCATTCACTGTAAATACTTTTAAAGATGGGGAAAAGAGAATATGATGTTTGCCAAGAAGTTTAAGGTTTTTCTCATTCCTTTTTAAAAACCTTATTTGTGATATTAGTGATATGGAAATAAAAGATTTGTTTCCTTATTTCATCACTACACTGTAATAAATTAAAGCATCCTTTCCCCCCCCGGCAGAAACTGCTTGCAAGTTTTCCTTTTTAAAAGATAGTCTTTCTTCTTGTTTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTC
ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGTCTCACATGGCAACAGCAAAGCAATGGAAGGATAGGAGGAGGGGTGATAAAACAGGAAAGAGAAGTTGGGGTCAATGTTTAGGTTCTACAACAAGTAGAATGACTTCACCAGCATGTAATACAAAACCCAACTCAAAATGACTTTCAACGGAGATACAGGATCTCATGCAATAAAGCCCAGAAGTAGCACAGTTCCAGAGTTGGCTAGGTGGGTGCTTGAGGAATTAATTGAGAAATTAAAGGGCTACAATTGCATTTGTAGCCCAAGCTATTAAAACAGCTCCTACACAAGAAGAAGGAGGAGGAGAAGAAAGAATTTTCTTAATTTCATTTTCAGATTATTCATCACTAGTATATAAAAATACAGTTGATTTTTGTATGTCCATCTTGTATCCTACAACCTTGCTGAACTCATTTATTAATTCTGCTATACAATTATTTTTTAAGTGACTTTTGGTCACAGTCTCCAGGAATAACAGAAGTGTTCTAGGAAAAAACAGCACAAATGAATAGTACCTGATACTCATTACATCTTCATGAATGACAGCAAGATGCAATATTTCTTATGACCCAAATCCTTTCCTGGAAATCAGTATCTAGAAAACCAAATACCCAAATAATACAGAATAGAGGCATAAAACTTCCATACTTAAAGATTAAGACATTTCATTTATTTATACAGTATGTAATTGACATGTGTCTTGGAGTATAAAATCATTGAAAATGCAATGTCTTTCCAAAATGAGTACCATTTTGGAAAACTCATGTTTGGAAAGGAAGCCATGGCAAATTCAGTGCCTTGGGGAGGGTACATAATGGATGGACCCATTCATGACTGCCAGGGACTTGTGCAAATCCTTTTCTGCAGGGCCATGATTGCACTAAAACACTTAATTACTACATGGAAGTTTTATCAGCAGTCATCCTCATAACTGATTCCAACAGTGGCTGGTTTTCTAACACAGCAATCTAGTTTGATTTTTATAAGCTAGAGAAAACACTAGACTGTTGAAACTTATAGGCAGGGCCTACGGGAGCAAAATGAAAATTCCTGAATATGTACTTGTGGTGCTTTGGTCCTGTGATAATTGGTGAAGACTCTCCTAATTTCTGTTTAGAAGAAACGAGTATCTTTCAAAACATTTCGTAGTAAAATGGTAGCAGATAGGGGTGCCTAATTGGAAACAGCTCATCCTAAGTGGACTTTTCCCCTCCGAAACATTAGACCCCTGACACACACACACACACACACCTCGCCGCTGCTGAAGCCAGACCACCTGTCCCTTTCCCTCCTCTGTGCAATGCGTGTGCTCTGTCCCACTCTGAAGGATACACGGAAGGATCACGTTTGACCTCATACCTTCTAAAAAGAAACAATGTCATTCACTGTAAATACTTTTAAAGATGGGGAAAAGAGAATATGATGTTTGCCAAGAAGTTTAAGGTTTTTCTCATTCCTTTTTAAAAACCTTATTTGTGATATTAGTGATATGGAAATAAAAGATTTGTTTCCTTATTTCATCACTACACTGTAATAAATTAAAGCATCCTTTCCCCCCCCGGCAGAAACTGCTTGCAAGTTTTCCTTTTTAAAAGATAGTCTTTCTTCTTGTTTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCAAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTC
Task1_train_3964
A genomic change on Chromosome 2 affects MERTK (MER proto-oncogene, tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Autosomal recessive retinitis pigmentosa
TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGTGGTATGTACACAGCTTTGATTCAGGGGTCCCACAGCACAAAGAGGAGGGCATATTGAAAGAAATGACCTCAGCTGGTATGGCAAGACATTTTACTCTTTGATAAACTGAGGGTTGGCAGCTTGCTCAGATCTCTTTTATATCTTACCATCAGATACTTTAATTCAAGTGGAACAGTAGATTCTGATGAAGTGTCCTGACATTCAGAAGATGTGTGCTTTGCAAAAGCCCTTAATTTCTTCCCATTTTTCCTTGCCGTCAAAGGATGACTCATTGCCCACAACTAGGATATTTCATAGTCACATTAAATTGAATGAGTTCATCCACTGGCTCTTGGAACCTAGATGCTATATGAAAGGTGCTGTGTAATTACGCCCTTGACCCGAGATAAGGAAAAAAAAGCACCTCACAGCAACAGTGGAGGAGAGCACTAAGCAGATGTGTGACGAGGCTGTTTCTGCCTTTGCCAGATTTCCCAGAACAGCTTTTGTAGAAGTGGGGAACTGTGACACTCCAACCCCACGTTATTGCCGCGTTGGGAGAGCAGTGCGTCTCACACATAATTGCCAGCTTTGTGCATGATCATCAGTGTTTAAGGAAATGACCTTTCCCAGTGAAAAAGTCCATTCAGGCTTTGTGGAAAGGCTTGCATCCTAACTTGTTGTTGCTTTGTTCCCAGTGGGCATTTGGCGTGACCATGTGGGAAATAGCTACGCGGGGAATGACTCCCTATCCTGGGGTCCAGAACCATGAGATGTATGACTATCTTCTCCATGGCCACAGGTTGAAGCAGCCCGAAGACTGCCTGGATGAACTGTGAGTGGGCTTCTCTGTCTCCCTTCCATACTCTGCATGGGGCAGCCACCTGGCTCTGCACTGACCTCGGAAACACAGCCATGGGAGGGGAAAGGGACTGCTGTTAGCCAGGTGGGCATGTGCAGAGGGGTGGAACCCACAGACACCCCAGCCCAGGAGCCATTCCTGATGTGGGAGATAGTGTGTGGTATCTCCAGTGAGCCCACTGAGGCTCACTCATCCAAAGGGCCTCAGTCTCGAACGACAGGCACGGTCAAGACAAGGCAATGGCACCTGTCCTAAAATTCCTTACACACCTCTAGGAAATATATCCACAGATAATAGCTTCGCCTTGTAGTGCATGAGGTCCTTGAATGATTCCTCACCCTCTTTTGGTCCAGTTATCTTTCTCCTTCTATGTAGCATTTCAAACACTCCACTCACAGTAGTAGCCTTCATCAGGAAACTCAGAAATCTAAACCAATGACTTTGGGGTCAGGCTGCTCATCAGAATCGCTTGGGAGATAGTGTAACAATACGATTCCTCGGCCCTGTTCCCGGAAATTATGATGCTTTCGGTACAAAGTGGGCCCAGAAATGTGTGTTTTAGAATGCTCCCTGGGGCTGGGCGCAGTGGCTCATGCACGTTATCCCAACACTTTGGGAGGCCAAAGAGGGCAGATCGTTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACATAGAGAGACCCTGTCTTTATTAAAAAATAATAAAATAAGGCCGAGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGACGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTCGCTAACACAGTGAAACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTAAAACTCCATCTCAAAAAAAATAAAAAATAATAAAATAATAAAATAAAGTGCTCCCTGAGAGATCATGTGTTTAGACAGGAGAAAGAACTACCAGCTG
TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGTGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGTGGTATGTACACAGCTTTGATTCAGGGGTCCCACAGCACAAAGAGGAGGGCATATTGAAAGAAATGACCTCAGCTGGTATGGCAAGACATTTTACTCTTTGATAAACTGAGGGTTGGCAGCTTGCTCAGATCTCTTTTATATCTTACCATCAGATACTTTAATTCAAGTGGAACAGTAGATTCTGATGAAGTGTCCTGACATTCAGAAGATGTGTGCTTTGCAAAAGCCCTTAATTTCTTCCCATTTTTCCTTGCCGTCAAAGGATGACTCATTGCCCACAACTAGGATATTTCATAGTCACATTAAATTGAATGAGTTCATCCACTGGCTCTTGGAACCTAGATGCTATATGAAAGGTGCTGTGTAATTACGCCCTTGACCCGAGATAAGGAAAAAAAAGCACCTCACAGCAACAGTGGAGGAGAGCACTAAGCAGATGTGTGACGAGGCTGTTTCTGCCTTTGCCAGATTTCCCAGAACAGCTTTTGTAGAAGTGGGGAACTGTGACACTCCAACCCCACGTTATTGCCGCGTTGGGAGAGCAGTGCGTCTCACACATAATTGCCAGCTTTGTGCATGATCATCAGTGTTTAAGGAAATGACCTTTCCCAGTGAAAAAGTCCATTCAGGCTTTGTGGAAAGGCTTGCATCCTAACTTGTTGTTGCTTTGTTCCCAGTGGGCATTTGGCGTGACCATGTGGGAAATAGCTACGCGGGGAATGACTCCCTATCCTGGGGTCCAGAACCATGAGATGTATGACTATCTTCTCCATGGCCACAGGTTGAAGCAGCCCGAAGACTGCCTGGATGAACTGTGAGTGGGCTTCTCTGTCTCCCTTCCATACTCTGCATGGGGCAGCCACCTGGCTCTGCACTGACCTCGGAAACACAGCCATGGGAGGGGAAAGGGACTGCTGTTAGCCAGGTGGGCATGTGCAGAGGGGTGGAACCCACAGACACCCCAGCCCAGGAGCCATTCCTGATGTGGGAGATAGTGTGTGGTATCTCCAGTGAGCCCACTGAGGCTCACTCATCCAAAGGGCCTCAGTCTCGAACGACAGGCACGGTCAAGACAAGGCAATGGCACCTGTCCTAAAATTCCTTACACACCTCTAGGAAATATATCCACAGATAATAGCTTCGCCTTGTAGTGCATGAGGTCCTTGAATGATTCCTCACCCTCTTTTGGTCCAGTTATCTTTCTCCTTCTATGTAGCATTTCAAACACTCCACTCACAGTAGTAGCCTTCATCAGGAAACTCAGAAATCTAAACCAATGACTTTGGGGTCAGGCTGCTCATCAGAATCGCTTGGGAGATAGTGTAACAATACGATTCCTCGGCCCTGTTCCCGGAAATTATGATGCTTTCGGTACAAAGTGGGCCCAGAAATGTGTGTTTTAGAATGCTCCCTGGGGCTGGGCGCAGTGGCTCATGCACGTTATCCCAACACTTTGGGAGGCCAAAGAGGGCAGATCGTTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACATAGAGAGACCCTGTCTTTATTAAAAAATAATAAAATAAGGCCGAGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGACGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTCGCTAACACAGTGAAACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTAAAACTCCATCTCAAAAAAAATAAAAAATAATAAAATAATAAAATAAAGTGCTCCCTGAGAGATCATGTGTTTAGACAGGAGAAAGAACTACCAGCTG
Task1_train_3965
The gene MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Retinitis pigmentosa
GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCT
GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTACTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCT
Task1_train_3966
Here is a mutation in MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Retinitis pigmentosa 38
CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACTGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
Task1_train_3967
Located on Chromosome 2, this mutation impacts MERTK (MER proto-oncogene, tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Retinal dystrophy
CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACTGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
Task1_train_3968
Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Treacher Collins syndrome 4
ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTACATGAGATCTCCAGAAACTTAATTTTGTTGCATAACTGAAGCTTTATACTCTTTGACCAACATCTCCCCGTGTCCCCCTCCACCAAACATTCTCTCATTTTTAATGATAATGCATCTAGCTGTGAATCCCCATGAGTTCTGACACATGGGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTCAGGTTTCTGTAATTTAGGTTTTTATTTCTCCTTTCACCCAGGAGTTTGTTGGAGTTTTTTTGTTTTGTTTTTGAGACAGGGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGATTAGCTGGGACTACAGGCACGTACCACCACACTCAGGTAATTTTTTAATTTTTGTAGAGACGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACCTCTGGGCTCAAGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGTATAAGCCACCCCCGGCCCACCCATGAGTTTTTGGTTTATTAAATTTACAAATAAAACCAGTAATCTACTGTATTTTAGATCACAGAGGACAGAATTTCCTTTAGTGTATCGACACGTGCATTCATGGTGTGCTTTATCCTTAGCCTCAGTAGTTAGTGATTTGCCTACTAGCTGGGGTGAGCACCCAAGGAAGTAGGGCTTTTACCATGGCTGAGTGTGGATGAGTGGTATTCCATGGGGCATAAGACTGGCAGCGACAGCCATGGCCTTGGGACAGGTTTGTTAAACTCTGTTTTTGTTAAAAACAGGTGTTGAGAGAGAAAAGAATTCCTCCCTGGATGGAAGTGGTCCTTATACCCATGACAGGAAAACCAAGTCTGTACCCAGGATTGTTCCTTTTTACCACTCCTTGTAGACTGGTACGGCCTGTGCAGAACTTAGCATTGGGCAAAGAAGAGCTAATTGGAACTATGGAACAGGTAAATACATATGTGTGATGGATGAGTGTATGTGCTTGTTTGTATAGTATACAACTTTCAGAGACTTAACTCTTCCTTTTTTAAAAGGGTTGTTAATGTTACAACAACAGTTGGACATTTGAAAGAAAGTCAGACTTTCCACCTCCTCTATGATCAGCACAGAGCAATTTCCATGTCTGATCTCACTCCACAGAACCTGAGAGAGGGCTGGTGGTCACATTACCTGCCTCCCATCTTATCTAGCTCCCAGAACTCCTTTGTACCTGGCTCTGCCTCAGCCGTGAAGTGAAAACATTCCATTAGATTCACACTCAGTCTTTGCCTACATATTTACAGTTGCAAAATTATAGGCTTTGTGCTACTTAAAAATTTTTCTTCCTATTCCCCTTCACAATTGGTCTGGGGTAGTTTTAGAGTGAGATACGTAAAGCAAGTGGTATTTCTAACTGGTCGCTTCCCTGTGCTTCCCAGTTGATCCCTTCAGCACTCATGATGCTGGGTGGGGATGGTTTTCTCTTGAGTCTTTGAGTACTGAACTCTGAGAAATGGTAAGAGTAAATGTGTAACCAGTTGCAGTTATTTTGTGCCTTGGACATCTGCTCTTCCAGATCTTCATGAATGTCGCTATCTTTGAGGATGAAGTTTTTGCTGGAGTTACCACACACCAGGAACTCTTTCCACACAGCCTGCTGAGTGTGATTGCCAACTTCATCCCTTTCTCTGATCACAACCAGAGTCCACGGAACATGTACCAATGCCAGATGGGTAAGGAAGAGGGATGATGTTACAGTCACAATCAGGAAAGTAAACTTGATACTAGCACACTCTTTTATTGTCCTTATTTACATATGCTGACCATTTGTTCCAAAAATACAGTTTATGGCAAGTTTTTCTTTTTTCTGTGCCACAAGCAACCAGCCCAGGATCACTCATTGTATTTAGTTGGCATGTCTATTTAGTTTCCTGTAATTTATGACAGATCTTTAAACATTCTTTGTCTTTGACATTGACATTTTTGAAGAAAAAGGTATAGAATGTCCATAGATTTGGGTGTGCCTGAGGTCTTATTATTTGATTTTTTGAAGAATACAAGCAATTATAGTCACCCGCATATTTATCACTTCCAGTCCTCTTCATTCCTGCTGCAAGATTCAAGTTTTCATTGTATACAATTTTCCTTCAGCCTGATAATCTTCCTTTAGCATTTTTTTATAGTGCAGGTTGCTGGCCACAAATTCTCTTTGTTTTCATTTATCTGAAAATGTCTTTATTTTGCTTCACTTGAAGGAATCTTTCACTGGATATACAATTCTGAGTTGACAGTTATTTTTCTTCCAACACTTAAAAGTTGTTGTTACACTGTCTCTTCTTAGTCTCTGTCATTTCTAGTTAGAAGGCAGCAGTCTTCTGAATATAGTGTGTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGTCTACAGGGACTCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCACTTTGGCCTCCCAAAGTGCTGTATTACAGGCGTGAGCCACTGCGCCCGGCCTCAAATTTTGTTTTTTTTCAGTTTAATTAAATTGCTAAACTCTTCTGTCATTATTTTTAAAAACATTGCTCCTATCCTTTTCTCTCTTTCCTCCTCTTCTATCAGTTATTCATATATTTAAACCTTTTGATATTGTTCCATAAGACATTGAGTTTCTGTTCTCTTTTTTCTTTATTTTCTTCAGATTGGATCTTTTTTTTTTTTTCCCGAGATGGAGTCTCACTTTGTTGCCCAGACTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCATGTTCAATAAATTCTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTGTTTTAGTAGAGATACGGTTTCACCATGTTGGCCTGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGGTTACAGGTGTGAGCCACTGCACCTGGCCCAGATTGGATTATTTTTATTGACCTATTATCACAGTCACTTTTTATTCTGTCTTCTACTGAATTTTTGCTTACAGTCATGTGCCCTTAACGACAGGGATACCTTCGAAGAAGTGAGTCATATGTGATTTTGTCGTAGTGTGAACATCATAGAGTGAACTTACACAAACCTAGATGGCAGAGACTACTACACACCTAGTATATGGTATAGCCTGTTGCTCCTAGGCTACAAACCTGGGTGGCATGTAACTGTACTGTGTACTGTCTACAGTTGTAAGACAATGGCAAGGATTTGTGTAGCTAAACATAGAAAAGGTACAGTAAAAATATGGGATCACCATAGTATATATGCCATCCTGCATTGACTAAAACATTGTTATGCAGTGCATGCCTGTATTTTTCAAGTCCAGCACTTCTACTTGTTTCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGGGTATCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCAATTTTCCTGCCTCTACCTCCTGAGTAGCTGAGATTACAG
ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTACATGAGATCTCCAGAAACTTAATTTTGTTGCATAACTGAAGCTTTATACTCTTTGACCAACATCTCCCCGTGTCCCCCTCCACCAAACATTCTCTCATTTTTAATGATAATGCATCTAGCTGTGAATCCCCATGAGTTCTGACACATGGGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTCAGGTTTCTGTAATTTAGGTTTTTATTTCTCCTTTCACCCAGGAGTTTGTTGGAGTTTTTTTGTTTTGTTTTTGAGACAGGGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGATTAGCTGGGACTACAGGCACGTACCACCACACTCAGGTAATTTTTTAATTTTTGTAGAGACGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACCTCTGGGCTCAAGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGTATAAGCCACCCCCGGCCCACCCATGAGTTTTTGGTTTATTAAATTTACAAATAAAACCAGTAATCTACTGTATTTTAGATCACAGAGGACAGAATTTCCTTTAGTGTATCGACACGTGCATTCATGGTGTGCTTTATCCTTAGCCTCAGTAGTTAGTGATTTGCCTACTAGCTGGGGTGAGCACCCAAGGAAGTAGGGCTTTTACCATGGCTGAGTGTGGATGAGTGGTATTCCATGGGGCATAAGACTGGCAGCGACAGCCATGGCCTTGGGACAGGTTTGTTAAACTCTGTTTTTGTTAAAAACAGGTGTTGAGAGAGAAAAGAATTCCTCCCTGGATGGAAGTGGTCCTTATACCCATGACAGGAAAACCAAGTCTGTACCCAGGATTGTTCCTTTTTACCACTCCTTGTAGACTGGTACGGCCTGTGCAGAACTTAGCATTGGGCAAAGAAGAGCTAATTGGAACTATGGAACAGGTAAATACATATGTGTGATGGATGAGTGTATGTGCTTGTTTGTATAGTATACAACTTTCAGAGACTTAACTCTTCCTTTTTTAAAAGGGTTGTTAATGTTACAACAACAGTTGGACATTTGAAAGAAAGTCAGACTTTCCACCTCCTCTATGATCAGCACAGAGCAATTTCCATGTCTGATCTCACTCCACAGAACCTGAGAGAGGGCTGGTGGTCACATTACCTGCCTCCCATCTTATCTAGCTCCCAGAACTCCTTTGTACCTGGCTCTGCCTCAGCCGTGAAGTGAAAACATTCCATTAGATTCACACTCAGTCTTTGCCTACATATTTACAGTTGCAAAATTATAGGCTTTGTGCTACTTAAAAATTTTTCTTCCTATTCCCCTTCACAATTGGTCTGGGGTAGTTTTAGAGTGAGATACGTAAAGCAAGTGGTATTTCTAACTGGTCGCTTCCCTGTGCTTCCCAGTTGATCCCTTCAGCACTCATGATGCTGGGTGGGGATGGTTTTCTCTTGAGTCTTTGAGTACTGAACTCTGAGAAATGGTAAGAGTAAATGTGTAACCAGTTGCAGTTATTTTGTGCCTTGGACATCTGCTCTTCCAGATCTTCATGAATGTCGCTATCTTTGAGGATGAAGTTTTTGCTGGAGTTACCACACACCAGGAACTCTTTCCACACAGCCTGCTGAGTGTGATTGCCAACTTCATCCCTTTCTCTGATCACAACCAGAGACCACGGAACATGTACCAATGCCAGATGGGTAAGGAAGAGGGATGATGTTACAGTCACAATCAGGAAAGTAAACTTGATACTAGCACACTCTTTTATTGTCCTTATTTACATATGCTGACCATTTGTTCCAAAAATACAGTTTATGGCAAGTTTTTCTTTTTTCTGTGCCACAAGCAACCAGCCCAGGATCACTCATTGTATTTAGTTGGCATGTCTATTTAGTTTCCTGTAATTTATGACAGATCTTTAAACATTCTTTGTCTTTGACATTGACATTTTTGAAGAAAAAGGTATAGAATGTCCATAGATTTGGGTGTGCCTGAGGTCTTATTATTTGATTTTTTGAAGAATACAAGCAATTATAGTCACCCGCATATTTATCACTTCCAGTCCTCTTCATTCCTGCTGCAAGATTCAAGTTTTCATTGTATACAATTTTCCTTCAGCCTGATAATCTTCCTTTAGCATTTTTTTATAGTGCAGGTTGCTGGCCACAAATTCTCTTTGTTTTCATTTATCTGAAAATGTCTTTATTTTGCTTCACTTGAAGGAATCTTTCACTGGATATACAATTCTGAGTTGACAGTTATTTTTCTTCCAACACTTAAAAGTTGTTGTTACACTGTCTCTTCTTAGTCTCTGTCATTTCTAGTTAGAAGGCAGCAGTCTTCTGAATATAGTGTGTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGTCTACAGGGACTCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCACTTTGGCCTCCCAAAGTGCTGTATTACAGGCGTGAGCCACTGCGCCCGGCCTCAAATTTTGTTTTTTTTCAGTTTAATTAAATTGCTAAACTCTTCTGTCATTATTTTTAAAAACATTGCTCCTATCCTTTTCTCTCTTTCCTCCTCTTCTATCAGTTATTCATATATTTAAACCTTTTGATATTGTTCCATAAGACATTGAGTTTCTGTTCTCTTTTTTCTTTATTTTCTTCAGATTGGATCTTTTTTTTTTTTTCCCGAGATGGAGTCTCACTTTGTTGCCCAGACTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCATGTTCAATAAATTCTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTGTTTTAGTAGAGATACGGTTTCACCATGTTGGCCTGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGGTTACAGGTGTGAGCCACTGCACCTGGCCCAGATTGGATTATTTTTATTGACCTATTATCACAGTCACTTTTTATTCTGTCTTCTACTGAATTTTTGCTTACAGTCATGTGCCCTTAACGACAGGGATACCTTCGAAGAAGTGAGTCATATGTGATTTTGTCGTAGTGTGAACATCATAGAGTGAACTTACACAAACCTAGATGGCAGAGACTACTACACACCTAGTATATGGTATAGCCTGTTGCTCCTAGGCTACAAACCTGGGTGGCATGTAACTGTACTGTGTACTGTCTACAGTTGTAAGACAATGGCAAGGATTTGTGTAGCTAAACATAGAAAAGGTACAGTAAAAATATGGGATCACCATAGTATATATGCCATCCTGCATTGACTAAAACATTGTTATGCAGTGCATGCCTGTATTTTTCAAGTCCAGCACTTCTACTTGTTTCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGGGTATCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCAATTTTCCTGCCTCTACCTCCTGAGTAGCTGAGATTACAG
Task1_train_3969
Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Treacher Collins syndrome 4
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTAAGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
Task1_train_3970
Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; POLR1B-related disorder
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTATGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
Task1_train_3971
Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Treacher Collins syndrome 4
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTATGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
Task1_train_3972
A mutation on Chromosome 2 affecting CKAP2L (cytoskeleton associated protein 2 like) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Filippi syndrome
GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTTGATCTCCCAGGTTCTAGCAATCCTCACACCTCAGTCTCCTGAGTAGCTGGGAATACAGGCGTGTACCACCATGCTGGATAATTTTAAAAAAATTTTTTGTAGAGACAGGATCTCACTATGTTGCCAGGGGTGGTCTCAAATTCCTGAGCTCAAGTGACCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTAAGTCAAAGCACTCGGCCTAAATTTACATTATTGCTTTCAATCCACAAAACAATCCAATGAGTTTTTGCAATCTGAAATTCAGAGAGAGTAAATGTCATGCCCAAAGTTACCCAGCTAATATGTGGCAATTCCAGGACTTGAAAACAGGCTTTTCTAACCCTGGAGCTCACAGCCACTGTTCTCAGCTACAACAGTCTGTTTTGAAGAATTTCTGTTACTGGCCCACCTGAGCTGGTGAGCCAGGCCTGGTCTTACGTCTTTTGTTTTTTTACAGGGATGATGATTTTTACCCACAAACCCTTATATGGCTTCCTTTGTTGGTACTAAGGATAAAATACGCCCGGTCTGCTCACGGCAGACACCTATACTATGGTGACTTTCTACGCAAGCCATTTGTGAGGGGATGACAAGTCAATAATTTCTGCCTTCAAGAACTTTCAAACTAGTAGTGGAGATAAAATCAACACAGCAACAATTACAGTATAAGGTAAAATCTAAGGGCCATAAGAGACGAAAAGAAGTATGGGAGTTCAGAGGTAGGGCATAAATGAGGGGAGTAGGTGGCTAGAAAAGGTTAAAAGTAAATAATGATGTGAAGGAAGACAAAAAGACGACAGGGGTGCCAAACGACTCTTAACCTCATCTGAACGGAGTTGCCCTGTTTTGCTCTCTGATGCTCATGTATCTATCCTTAGAGACAGCTTGGCGGGCAATGTAGAGCGTAGGGGCTGACATAGGGGGTTGGAGTCCCACCTCCGTGACTTCTAGCAAATTAGCAAACTTTGCTGCTGCTAAGCCTATAAGGCGGACAGAAATGCCATCTTTAAAGCTTGTTATGTAAAGTGCCTAGGACCTCGTAGGCATCAACAGGAATAATGGATGAAACAAAACAACGGTGCGTATCTTGGAGAAAGTGGCATCTGAGCAGGAGTATTTTGAAAGGTAGGAAAGGGCTCCAAGCACATCTAAGAGATTAGGGAACGCAGAAGCCTTAGCCCTGGGTGCAGATTTAACCAATCAACTTCTAACCACCGCAGGCTGAGAGGTGTGGAGTGAGAGCCCCGCCAGAGGCAGGAGACCCGGGCTTCGGCCAGACCCCGCCTCCTGGCACAGAGGACCACGCCCGGCTCTGCCTGGAGCCAAATGTGGATCAAAACAGCGCGCAGCTTCCCACTGCTGGTGAAAACCCGAGCAAGGGGCCTCAGTTTCTTTATCCGGAACGTGGTGACAATGACATCTCTTTGCAAGGCTGCTGCAGGGCTTTCTGGAAATACGCCCGTGAGGTATCTGGGCCTGCGCACAGCCTCCCCCGCCCAGGACCCAGACGTCTACCTGGGGGTCCCGTCTGCGCTCCCGGGATGGAAAACGCCCAGGGGAAACTTAGGCAGGCGAGCGGACGGGCACCTCCCGCGGGACGAACTCACTCGGTGGCCTCCTACTTCCCCGGCCGTGTTCCAACGCCTGAGAATAACGGGAACAGCGGTCGTACTCACCGACAGCGGCAGCAGCGGTAGGCCCGGGCCCCACCATGACTCTTCAGTGACAGTTTTTCTTCAAACGCCGCGCCTGTAGCCAGGACCGGCGTGCCGCGCGTCCACGCGTCCTCATTGGCTCCTGCGGGTTTGAAACTCGCTAGTCGTCAGCACGGGAGGGCGGGACAACAGGCAATAGGCTCTTTGCGGTTGGCTCTGGCCTTGAGAACCCGACCTTGGGGCCCTTTGATTGGAAGAACGTGCAGCGCACCTCGGCATTGAGGGCGGCTTCCTCGGGGCGCGGCGCCGCCCGCCTCTGAGTGCGCCTGTGAGTGCGCCTCCGAGTGGGCGTGGGACCCTCCGTGGGGGCCTCAGCCGGGCTGGTGGTTGGGGGGCGGTTACGCTGAATCCAGCTGGGGTTGGCGCGCCGGGAGTCCCTGGGCGGAGAGACAGGGCGGTCCTCCCAGGATGCTGGGGCCGCTACCTGATTCTGTCCTTTCAAAGTCTCAGACTCACAGGAGCTGTGAAAAAATAATATTATAAAGAGGACATATGGGTCTTATGCATCTAAAGGCTCCTAGTTCTTAGTACTGCAGGGTGGCTCGTTTAATTGTGGTAAAATATGCATAACATCACATATACCATTTTAACCATTTTAAAGTGTTAAATTTTTCAAAAATGTGCAGTTTAGTGGTATTAAGTACCCTCACATTGTGGCACAGCCACCACTACTGTCCTTTCCAGAACTTTTTCATCTTCCCAAATGAAACCCTGTACCCGTCACTAACTCCGCACTCCTCCCTCCCCCAGCCCCAGGCAATCACCATTCTAGTTTCTGTCTCTATGGATTTGACAACTGTAGGTGCCATATAAGTAGAATCATGCAGTATTTGTTCTGTGACTGGCTTGTTTCACTTAGCATAAAGTATTCAAGGTTCATCCATGTGTAGCATGTGTCAGAATTTCCTTTCCTTTTAAGGGGGAATAGCATTTCGTTGTGTGGAGATGCCACATTTTGCTTCTTGGTCCATCCCTCTCCGGACACTTGAGTTGCTTCCACTTTTTGGCTATTGTGAATAATAATATGAACATGAATGCACAAATAACTCTTTGAGACTCTCCTTTTCATTCTTTTGGGTATATACCACGAAGTGGTATTGTTGGATCAAACGGCAATTCTATTTTTAATTTTTTGAGAAACTGCCTTACTCCTCTCACGGTGATCTCTTGTTCAAGGTATATTTTCGATTTCACCTGATCAGCTGACTATAAGGCCATAAGGCTAACGGAGAAACGCAGGCCTAGTTTCTCCTAGTTACTAGGAGATCGCAGGCCTCGTTGTCCTGAATCCCTAGACACACTTCATTCCCCTTGTTTTAATCCTAAATTTTTTTTCTTTTGAAGTTTGTCCTGTTTCATCTATTCTCCAGTTTCTTAAAGAGGTCTGGAAAATGCTTTTGGCTCCTTGTGTATGAAGGTTCCTCTTCCATGGATGCTGGAGAAGTCGTGTGTGGAGGGGCAGTCATATCTGGGCACCTGTTGGCCAGGTTCAGCTTACCAGTTGGGTACTCAGCAGGGCATGAAGCCACTGCAGCAGCCCTTCTCTTTAGCCGTAAATAGGGAGTTTGGAAGAGAGCCAGGGTTTCTGGATTTATGCATTTTGATATTTTCAATAGTGTATTAAATGTTTAAAATAGGAAAACTGATCATTATTTTTGTTAATGACTGAGAAAGGGACTCCTTCACCAACAGTTTCAGAAAAGTGAAGGCGGTTTTGTTTTGGTCTTTGTAGAATCTAGGTGGTTGAATGCATGTCAGTTGTAGAAGTCACCTTGCCTGATATCCCACGCAGTGCTGGAGTATTCCACAGACCCCATGTAGGTACTGCACCTTTGCAGGTATACTGCTGGTGTTGGTGAGCTGCCTTACCTGTCCTGTTATTGGAGACCCCTGCTTATTAGGAAACTTAAAATGAACTCAAATGAGCTTCCTTGCTTACTGGTCCTAGTCCTTTGGAGCAACATAGGCCAGTTCTGCCTCGTTTTTTTCCATCCTTTGGGTATTTGACGGTCTATTTTGTAGGACACAAAATGTGGGAAAATAG
GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTTGATCTCCCAGGTTCTAGCAATCCTCACACCTCAGTCTCCTGAGTAGCTGGGAATACAGGCGTGTACCACCATGCTGGATAATTTTAAAAAAATTTTTTGTAGAGACAGGATCTCACTATGTTGCCAGGGGTGGTCTCAAATTCCTGAGCTCAAGTGACCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTAAGTCAAAGCACTCGGCCTAAATTTACATTATTGCTTTCAATCCACAAAACAATCCAATGAGTTTTTGCAATCTGAAATTCAGAGAGAGTAAATGTCATGCCCAAAGTTACCCAGCTAATATGTGGCAATTCCAGGACTTGAAAACAGGCTTTTCTAACCCTGGAGCTCACAGCCACTGTTCTCAGCTACAACAGTCTGTTTTGAAGAATTTCTGTTACTGGCCCACCTGAGCTGGTGAGCCAGGCCTGGTCTTACGTCTTTTGTTTTTTTACAGGGATGATGATTTTTACCCACAAACCCTTATATGGCTTCCTTTGTTGGTACTAAGGATAAAATACGCCCGGTCTGCTCACGGCAGACACCTATACTATGGTGACTTTCTACGCAAGCCATTTGTGAGGGGATGACAAGTCAATAATTTCTGCCTTCAAGAACTTTCAAACTAGTAGTGGAGATAAAATCAACACAGCAACAATTACAGTATAAGGTAAAATCTAAGGGCCATAAGAGACGAAAAGAAGTATGGGAGTTCAGAGGTAGGGCATAAATGAGGGGAGTAGGTGGCTAGAAAAGGTTAAAAGTAAATAATGATGTGAAGGAAGACAAAAAGACGACAGGGGTGCCAAACGACTCTTAACCTCATCTGAACGGAGTTGCCCTGTTTTGCTCTCTGATGCTCATGTATCTATCCTTAGAGACAGCTTGGCGGGCAATGTAGAGCGTAGGGGCTGACATAGGGGGTTGGAGTCCCACCTCCGTGACTTCTAGCAAATTAGCAAACTTTGCTGCTGCTAAGCCTATAAGGCGGACAGAAATGCCATCTTTAAAGCTTGTTATGTAAAGTGCCTAGGACCTCGTAGGCATCAACAGGAATAATGGATGAAACAAAACAACGGTGCGTATCTTGGAGAAAGTGGCATCTGAGCAGGAGTATTTTGAAAGGTAGGAAAGGGCTCCAAGCACATCTAAGAGATTAGGGAACGCAGAAGCCTTAGCCCTGGGTGCAGATTTAACCAATCAACTTCTAACCACCGCAGGCTGAGAGGTGTGGAGTGAGAGCCCCGCCAGAGGCAGGAGACCCGGGCTTCGGCCAGACCCCGCCTCCTGGCACAGAGGACCACGCCCGGCTCTGCCTGGAGCCAAATGTGGATCAAAACAGCGCGCAGCTTCCCACTGCTGGTGAAAACCCGAGCAAGGGGCCTCAGTTTCTTTATCCGGAACGTGGTGACAATGACATCTCTTTGCAAGGCTGCTGCAGGGCTTTCTGGAAATACGCCCGTGAGGTATCTGGGCCTGCGCACAGCCTCCCCCGCCCAGGACCCAGACGTCTACCTGGGGGTCCCGTCTGCGCTCCCGGGATGGAAAACGCCCAGGGGAAACTTAGGCAGGCGAGCGGACGGGCACCTCCCGCGGGACGAACTCACTCGGTGGCCTCCTACTTCCCCGGCCGTGTTCCAACGCCTGAGAATAACGGGAACAGCGGTCGTACTCACCGACAGCGGCAGCAGCGGTAGGCCCGGGCCCCACCGTGACTCTTCAGTGACAGTTTTTCTTCAAACGCCGCGCCTGTAGCCAGGACCGGCGTGCCGCGCGTCCACGCGTCCTCATTGGCTCCTGCGGGTTTGAAACTCGCTAGTCGTCAGCACGGGAGGGCGGGACAACAGGCAATAGGCTCTTTGCGGTTGGCTCTGGCCTTGAGAACCCGACCTTGGGGCCCTTTGATTGGAAGAACGTGCAGCGCACCTCGGCATTGAGGGCGGCTTCCTCGGGGCGCGGCGCCGCCCGCCTCTGAGTGCGCCTGTGAGTGCGCCTCCGAGTGGGCGTGGGACCCTCCGTGGGGGCCTCAGCCGGGCTGGTGGTTGGGGGGCGGTTACGCTGAATCCAGCTGGGGTTGGCGCGCCGGGAGTCCCTGGGCGGAGAGACAGGGCGGTCCTCCCAGGATGCTGGGGCCGCTACCTGATTCTGTCCTTTCAAAGTCTCAGACTCACAGGAGCTGTGAAAAAATAATATTATAAAGAGGACATATGGGTCTTATGCATCTAAAGGCTCCTAGTTCTTAGTACTGCAGGGTGGCTCGTTTAATTGTGGTAAAATATGCATAACATCACATATACCATTTTAACCATTTTAAAGTGTTAAATTTTTCAAAAATGTGCAGTTTAGTGGTATTAAGTACCCTCACATTGTGGCACAGCCACCACTACTGTCCTTTCCAGAACTTTTTCATCTTCCCAAATGAAACCCTGTACCCGTCACTAACTCCGCACTCCTCCCTCCCCCAGCCCCAGGCAATCACCATTCTAGTTTCTGTCTCTATGGATTTGACAACTGTAGGTGCCATATAAGTAGAATCATGCAGTATTTGTTCTGTGACTGGCTTGTTTCACTTAGCATAAAGTATTCAAGGTTCATCCATGTGTAGCATGTGTCAGAATTTCCTTTCCTTTTAAGGGGGAATAGCATTTCGTTGTGTGGAGATGCCACATTTTGCTTCTTGGTCCATCCCTCTCCGGACACTTGAGTTGCTTCCACTTTTTGGCTATTGTGAATAATAATATGAACATGAATGCACAAATAACTCTTTGAGACTCTCCTTTTCATTCTTTTGGGTATATACCACGAAGTGGTATTGTTGGATCAAACGGCAATTCTATTTTTAATTTTTTGAGAAACTGCCTTACTCCTCTCACGGTGATCTCTTGTTCAAGGTATATTTTCGATTTCACCTGATCAGCTGACTATAAGGCCATAAGGCTAACGGAGAAACGCAGGCCTAGTTTCTCCTAGTTACTAGGAGATCGCAGGCCTCGTTGTCCTGAATCCCTAGACACACTTCATTCCCCTTGTTTTAATCCTAAATTTTTTTTCTTTTGAAGTTTGTCCTGTTTCATCTATTCTCCAGTTTCTTAAAGAGGTCTGGAAAATGCTTTTGGCTCCTTGTGTATGAAGGTTCCTCTTCCATGGATGCTGGAGAAGTCGTGTGTGGAGGGGCAGTCATATCTGGGCACCTGTTGGCCAGGTTCAGCTTACCAGTTGGGTACTCAGCAGGGCATGAAGCCACTGCAGCAGCCCTTCTCTTTAGCCGTAAATAGGGAGTTTGGAAGAGAGCCAGGGTTTCTGGATTTATGCATTTTGATATTTTCAATAGTGTATTAAATGTTTAAAATAGGAAAACTGATCATTATTTTTGTTAATGACTGAGAAAGGGACTCCTTCACCAACAGTTTCAGAAAAGTGAAGGCGGTTTTGTTTTGGTCTTTGTAGAATCTAGGTGGTTGAATGCATGTCAGTTGTAGAAGTCACCTTGCCTGATATCCCACGCAGTGCTGGAGTATTCCACAGACCCCATGTAGGTACTGCACCTTTGCAGGTATACTGCTGGTGTTGGTGAGCTGCCTTACCTGTCCTGTTATTGGAGACCCCTGCTTATTAGGAAACTTAAAATGAACTCAAATGAGCTTCCTTGCTTACTGGTCCTAGTCCTTTGGAGCAACATAGGCCAGTTCTGCCTCGTTTTTTTCCATCCTTTGGGTATTTGACGGTCTATTTTGTAGGACACAAAATGTGGGAAAATAG
Task1_train_3973
This gene mutation involves IL37 (interleukin 37) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Inflammatory bowel disease
TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGGCTGAGTCTTCCATTTTCAATGTGAAGTGTTGATATCTGGTGATATTGATCTAGGTCCAAAGGTGAAGAACTTAAACCCGAAGAAATTCAGCATTCATGACCAGGATCACAAAGTACTGGTCCTGGACTCTGGGAATCTCATAGCAGTTCCAGATAAAAACTACATACGCCCAGGTGACTCTCAGTTTTGGCTGTGTTTTCTGCCTCCACCTAGCAGGGGTAAGGCCTCCTGCTAGGTGGGCTCAACTCCATGCTATACCATGCCCCATCTCCAGCAGGTGGTGGAAGCGAGGAGGAGAGGCCCCAGGGACTAGGGCATCAGATGAAGGGTCTCTAGCAATGACCAGATCTGAAAGTAGTCTTTCTGGAAGGGCTGGAGAAAAAGAAGGAGGCAGACACTTAGACTGGAAGAAGAGGAGGCTTAAACCAGTGTGATGGAGGGAGAAGTGGACCACAGAGTCAAGGGAGAGGGACTGTGCATCAGGCCTGAAACCCCAGCAGACAGGAGAGACCTTTCCCTGCTCTCAGAACCCACACATGTTCTGACTGTCTTTTTCCAGAGATCTTCTTTGCATTAGCCTCATCCTTGAGCTCAGCCTCTGCGGAGAAAGGAAGTCCGATTCTCCTGGGGGTCTCTAAAGGGGAGTTTTGTCTCTACTGTGACAAGGATAAAGGACAAAGTCATCCATCCCTTCAGCTGAAGGTGAGAGTTCTAGCTCAGTTTCCTGGGCCTTTGGCTACCCCAAAGTAAAAGGCCAAGATCCTCAATGCCTCTCGCTTTCCTGCAAATTCTTATCTTGGCCAATATAACAGGGACATCCACCTTTCTGGAAGCACCAGGCAGAAGAGCCCCATAACTTCTTCTCTGGTTCCTTGCCCCTTCTAGGGAAGGAGGAGAGACTCCTCACAGCGGGGAGACAGCAAGGAGCTGAGCACCTGTTCTCCTCTCCTGGGCTCACTGGTCCTGGCCCTGGGCGGGTGGCGGTCCCCTCCTGCTGTGGCCCTCCATGTGGCAAGCAACACAATTGGGCCAGGACCCTGGCGTGCTGCTGTAGGGTAGGAGGGTGTGAGGGAGCACTCGGAGGGCAGTGTGTCTGCCCTGCAAATTTAGTCCTGGATGGAGCACCTTTCACTTGAGGGGAGAAATCTTAGGAAGCTGAATTAGATACAGATCTAAGCCATATTCTCTAATTTTAAAAACTATAGAGCTGAGATTTTGGTATCCATCTGACTCTTACGTCTCTCTCTCTCTCTCTCTCTCAGTTTATTTTTAATCTGGGGGACAAGAAGGCCTGGAAAAGAGGGCAGGATTGCTTATCATCCCTTAAATACCAGTACCAAGGCTGACACGTCATCTTTCCCAAGGACCATCTGCCTTCTCTCTTTTCCTCCTCTCCTGTGTAAAGGCCTGGAGGATGAGCACATGTGCTGTGTTTTCCTCCCTCTCAAAGCCTGTGCTATCTAATTAATCCCTTTTACCTCACAGAAGGAGAAACTGATGAAGCTGGCTGCCCAAAAGGAATCAGCACGCCGGCCCTTCATCTTTTATAGGGCTCAGGTGGGCTCCTGGAACATGCTGGAGTCGGCGGCTCACCCCGGATGGTTCATCTGCACCTCCTGCAATTGTAATGAGCCTGTTGGGGTGACAGATAAATTTGAGAACAGGAAACACATTGAATTTTCATTTCAACCAGTTTGCAAAGCTGAAATGAGCCCCAGTGAGGTCAGCGATTAGGAAACTGCCCCATTGAACGCCTTCCTCGCTAATTTGAACTAATTGTATAAAAACACCAAACCTGCTCACTAAACTTTCTGTCATTGGGTTTCATTTCTCATTCATGCTTTAAGGATTTGTGTTTTTAGGATATAGCAAGAAGCTTGTTTAATTACAAAGTTCTGGGTTGGAAAGAGACCGGCTTCTGCTTGTGTACTGCTACCCTGAACCATCAGACATGCATGTGTGTGTCATATGCTATGATGTGGCCAGTCTGAGTGCAATACTTGCAGTGGGAAGGAGCAGCTGGGTGCATGCTGTGCTCTAGAATTAGTCTTTCCTACTGGGGTTTGGTAGATTCTGAGGGCATTGATCCTGGGGCAGAAGTGGCTGAGTCTGTGTCTAGGGTACAGTGTGCAAGAAAGAAATGTAACAGCAAGTCACAATCCAGCCAAGTGATAGTGGAAAAGGGGTAGTTAGGTCCCAGATAAGGAGCAGGGTGACTTGACCTGTGGGAAAGGCACAGAGACAAGGAATCTGGGTCAGATGACAGCCAGGAGACCAGGTGAGGGAGGAGCCAGGTACTGTCTGGGAGGCTTGTCAACAAGGGCATGGTCCTATCACTAAGCAGGGCTCAGATCCTCATAATGGGGGAGTGGAAGGCTGGCCGAACAGAAATCAGGGCCTGGAAACAGAGTGAGGGGGTGGAGACAGGAGACTGAGGCTTGGAAATTAGTTTATTAGTTTTAGCTCTTCAGTTACAAGCAATAATAATAGCTTCTAGCTTATTTAAGCAACAAGTATACTACAAAAGGAGCTTTCTAGAAGGATATTGGGTATATTCATTTCTTACTGCTGCTGTAACAAATTACCACCAACTTAGTGGTTTAAACAATGCAATGTATTATCTTGCAGTTATGGAGGTCAGTCTGGAATGTGTCTCACTGGGCCAAAATCAAAGTATCAGCAGGATAGCATTGCTTTGGGAGGCTCTAGGGGAGAGTCAATTTCCTTGCCTTTTCCAGCTTCCAGAGGCCACCTGCATTCCTTGGCTAGTGGCCCACTCCCATCTTCGCTGCTTGGGTTTTTCTCACACTGCTTTGCTCTGACCCTCCTGCCTTCCTCTTTCACATATAAGAACGCTTGCAATTTACATCGGGCTCACGTCAATATCCAGGATACTCTCCCGTCTCAAAGAGGCTTAACTTTAATCACAGATGCAAAGTCCCTTTTGCTATGTCATGTAACATATACACAGGGTCTGGGGATTAGAATGTGGACATTTTCGGGGTGCCATTATTCTGCCTATCATGTGAAGTAACTTTCAAAATGGAAAGACATGCTGAAGAAAAAGTCAGGGATTTCTGGCAGGCCAGAAATGACAGAAGGCAGAAAACGTTGGTCCCATCACTCAGATGGGTAAGAGCCAATCATGCTTTTTGTCAGTTAGCAAAAGATTGAGATTCCAAGCAAAGCATGCAACTGCCCTAGTTTGGGTCATGTGTCGACTCCTTGGTCAGTGAAGGGCAGCACACCTTGATCAATACTCCCTCCAAGACTGTATCCAACGAGGCCAGTGATGTTCCTCAAAGCAGAGCTAGAGAGCTAATCCCAGGAGAGAGGCGTGTGGGTGGTGGGCAGGAAGACAAAGCTCAGCCGTAAAGGAGTAGTAGGGACAGCACCCCAGGCATGGAGGCTCAAGTGAGATGATACCCATGGGAAAAGCTCTGATAAGGTCAGCTCCTTCTGTTTCTGATCCTGATGGTGATGGTGATCAACACCAGCCCAGTGACAAAAAAGTACATAGTATATTTAGTAGATGTTTCCCACACAGAGAAATGGTAAATATTCAAGGCGAGGAATACTCCAAACATCCTACCTTGATCATTACACATTCCGTGCATGTAATGAGTACTTGCATGTATGCCATAAATATGTGAA
TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGGCTGAGTCTTCCATTTTCAATGTGAAGTGTTGATATCTGGTGATATTGATCTAGGTCCAAAGGTGAAGAACTTAAACCCGAAGAAATTCAGCATTCATGACCAGGATCACAAAGTACTGGTCCTGGACTCTGGGAATCTCATAGCAGTTCCAGATAAAAACTACATACGCCCAGGTGACTCTCAGTTTTGGCTGTGTTTTCTGCCTCCACCTAGCAGGGGTAAGGCCTCCTGCTAGGTGGGCTCAACTCCATGCTATACCATGCCCCATCTCCAGCAGGTGGTGGAAGCGAGGAGGAGAGGCCCCAGGGACTAGGGCATCAGATGAAGGGTCTCTAGCAATGACCAGATCTGAAAGTAGTCTTTCTGGAAGGGCTGGAGAAAAAGAAGGAGGCAGACACTTAGACTGGAAGAAGAGGAGGCTTAAACCAGTGTGATGGAGGGAGAAGTGGACCACAGAGTCAAGGGAGAGGGACTGTGCATCAGGCCTGAAACCCCAGCAGACAGGAGAGACCTTTCCCTGCTCTCAGAACCCACACATGTTCTGACTGTCTTTTTCCAGAGATCTTCTTTGCATTAGCCTCATCCTTGAGCTCAGCCTCTGCGGAGAAAGGAAGTCCGATTCTCCTGGGGGTCTCTAAAGGGGAGTTTTGTCTCTACTGTGACAAGGATAAAGGACAAAGTCATCCATCCCTTCAGCTGAAGGTGAGAGTTCTAGCTCAGTTTCCTGGGCCTTTGGCTACCCCAAAGTAAAAGGCCAAGATCCTCAATGCCTCTCGCTTTCCTGCAAATTCTTATCTTGGCCAATATAACAGGGACATCCACCTTTCTGGAAGCACCAGGCAGAAGAGCCCCATAACTTCTTCTCTGGTTCCTTGCCCCTTCTAGGGAAGGAGGAGAGACTCCTCACAGCGGGGAGACAGCAAGGAGCTGAGCACCTGTTCTCCTCTCCTGGGCTCACTGGTCCTGGCCCTGGGCGGGTGGCGGTCCCCTCCTGCTGTGGCCCTCCATGTGGCAAGCAACACAATTGGGCCAGGACCCTGGCGTGCTGCTGTAGGGTAGGAGGGTGTGAGGGAGCACTCGGAGGGCAGTGTGTCTGCCCTGCAAATTTAGTCCTGGATGGAGCACCTTTCACTTGAGGGGAGAAATCTTAGGAAGCTGAATTAGATACAGATCTAAGCCATATTCTCTAATTTTAAAAACTATAGAGCTGAGATTTTGGTATCCATCTGACTCTTACGTCTCTCTCTCTCTCTCTCTCTCAGTTTATTTTTAATCTGGGGGACAAGAAGGCCTGGAAAAGAGGGCAGGATTGCTTATCATCCCTTAAATACCAGTACCAAGGCTGACACGTCATCTTTCCCAAGGACCATCTGCCTTCTCTCTTTTCCTCCTCTCCTGTGTAAAGGCCTGGAGGATGAGCACATGTGCTGTGTTTTCCTCCCTCTCAAAGCCTGTGCTATCTAATTAATCCCTTTTACCTCACAGAAGGAGAAACTGATGAAGCTGGCTGCCCAAAAGGAATCAGCACGCCGGCCCTTCATCTTTTATAGGGCTCAGGTGGGCTCCTGGAACATGCTGGAGTCGGCGGCTCACCCCGGATGGTTCACCTGCACCTCCTGCAATTGTAATGAGCCTGTTGGGGTGACAGATAAATTTGAGAACAGGAAACACATTGAATTTTCATTTCAACCAGTTTGCAAAGCTGAAATGAGCCCCAGTGAGGTCAGCGATTAGGAAACTGCCCCATTGAACGCCTTCCTCGCTAATTTGAACTAATTGTATAAAAACACCAAACCTGCTCACTAAACTTTCTGTCATTGGGTTTCATTTCTCATTCATGCTTTAAGGATTTGTGTTTTTAGGATATAGCAAGAAGCTTGTTTAATTACAAAGTTCTGGGTTGGAAAGAGACCGGCTTCTGCTTGTGTACTGCTACCCTGAACCATCAGACATGCATGTGTGTGTCATATGCTATGATGTGGCCAGTCTGAGTGCAATACTTGCAGTGGGAAGGAGCAGCTGGGTGCATGCTGTGCTCTAGAATTAGTCTTTCCTACTGGGGTTTGGTAGATTCTGAGGGCATTGATCCTGGGGCAGAAGTGGCTGAGTCTGTGTCTAGGGTACAGTGTGCAAGAAAGAAATGTAACAGCAAGTCACAATCCAGCCAAGTGATAGTGGAAAAGGGGTAGTTAGGTCCCAGATAAGGAGCAGGGTGACTTGACCTGTGGGAAAGGCACAGAGACAAGGAATCTGGGTCAGATGACAGCCAGGAGACCAGGTGAGGGAGGAGCCAGGTACTGTCTGGGAGGCTTGTCAACAAGGGCATGGTCCTATCACTAAGCAGGGCTCAGATCCTCATAATGGGGGAGTGGAAGGCTGGCCGAACAGAAATCAGGGCCTGGAAACAGAGTGAGGGGGTGGAGACAGGAGACTGAGGCTTGGAAATTAGTTTATTAGTTTTAGCTCTTCAGTTACAAGCAATAATAATAGCTTCTAGCTTATTTAAGCAACAAGTATACTACAAAAGGAGCTTTCTAGAAGGATATTGGGTATATTCATTTCTTACTGCTGCTGTAACAAATTACCACCAACTTAGTGGTTTAAACAATGCAATGTATTATCTTGCAGTTATGGAGGTCAGTCTGGAATGTGTCTCACTGGGCCAAAATCAAAGTATCAGCAGGATAGCATTGCTTTGGGAGGCTCTAGGGGAGAGTCAATTTCCTTGCCTTTTCCAGCTTCCAGAGGCCACCTGCATTCCTTGGCTAGTGGCCCACTCCCATCTTCGCTGCTTGGGTTTTTCTCACACTGCTTTGCTCTGACCCTCCTGCCTTCCTCTTTCACATATAAGAACGCTTGCAATTTACATCGGGCTCACGTCAATATCCAGGATACTCTCCCGTCTCAAAGAGGCTTAACTTTAATCACAGATGCAAAGTCCCTTTTGCTATGTCATGTAACATATACACAGGGTCTGGGGATTAGAATGTGGACATTTTCGGGGTGCCATTATTCTGCCTATCATGTGAAGTAACTTTCAAAATGGAAAGACATGCTGAAGAAAAAGTCAGGGATTTCTGGCAGGCCAGAAATGACAGAAGGCAGAAAACGTTGGTCCCATCACTCAGATGGGTAAGAGCCAATCATGCTTTTTGTCAGTTAGCAAAAGATTGAGATTCCAAGCAAAGCATGCAACTGCCCTAGTTTGGGTCATGTGTCGACTCCTTGGTCAGTGAAGGGCAGCACACCTTGATCAATACTCCCTCCAAGACTGTATCCAACGAGGCCAGTGATGTTCCTCAAAGCAGAGCTAGAGAGCTAATCCCAGGAGAGAGGCGTGTGGGTGGTGGGCAGGAAGACAAAGCTCAGCCGTAAAGGAGTAGTAGGGACAGCACCCCAGGCATGGAGGCTCAAGTGAGATGATACCCATGGGAAAAGCTCTGATAAGGTCAGCTCCTTCTGTTTCTGATCCTGATGGTGATGGTGATCAACACCAGCCCAGTGACAAAAAAGTACATAGTATATTTAGTAGATGTTTCCCACACAGAGAAATGGTAAATATTCAAGGCGAGGAATACTCCAAACATCCTACCTTGATCATTACACATTCCGTGCATGTAATGAGTACTTGCATGTATGCCATAAATATGTGAA
Task1_train_3974
The gene IL36RN (interleukin 36 receptor antagonist), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Generalized pustular psoriasis
GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAAAGGCTGAGGCATCCTTGGAGGAACAGGCAGACTCCACAGCTCCCGCCAGGAGAAAGGAACATTCTGAGGTATGCTCTGGGGCGCTGGTGGTACCGGAGCTCTCTCCTGACCCCAGACCCAGAATCTGCTCCGTGGAGGCTGTTCACATGCTGGGGAGCTCGGTGCAGCTGCTTGCTCCCCAGACCCCAGCCAACTCAGCCTCTCTCTCCATGATTTTCTGTTGTTTATTCCAAAATAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTCCTGAGTGGGGCGCTGTGCTTCCGGTGAGTGTATGAGGCCCTGGTTTGGTGGTGTCCTCCGGAGGAAGTGAGTTCTGGATAGACCCGTTGTCCAGCTCTGAGCAGGAGGGAGGAAGGGAGGGGCTGCCATTGCAGCTGGGAAATTGTGACCAGCACCTCACTGCTCTTAGAGTTTTCCCAGCCTTTTTCAAATAGGGGCAGGACTGGGGCAGGCCATCTCACAAGGGGTCCCTGATGCTGAGGGGGATAAGTGAACCTCCCAGTCTAGAGCTCCAGCCAAGTCTATCCAAGGTGGGAACGGGGGCCAGGATCCCTGCTCAGAGCTCCGCCATTGTCCCCCATCACAGTGAATGGATGTAAGCTCACCCACTCTGTGCCCCTGCCTCCCTGCTACTCTTTGGGGATAATAATAAAACAAAAACCATTACCATCAGTCAGTCTGTCCACCCACTGGCATGTACCAAGCCAGACACTCTGCCGTGTTCTGGGCTTTACAACAGAGGATGAGAGTGGTCCTTTCTCTCAGTCTAATAAAGCACTTCCCATGATGTGTTCTATGGGACTCGATTAGAGGAGTCCCACAGAGGCATCCAGGAGATGCTTTACACAGTGGAGCTCTCTGATCAAGTAAATGCAGGGAATTCTGCTTTCTACATCCTCTCATAAGAGAACCACAGCCCAGCTCAGCATATGAGTGACTCTGAGGTTTTCTGAAGTAAGGCAACTTGTTGAATTGTATTTAGCCATGCATCGACCCAATTTTTACACTGCATCCTTTTCCCCCATATAACTTTTGGAGAAACCCACTTTAGGATACATCTTCCACCTCATAGGATGCCAGGAAATCAACTGAGTTCAAAGATGAGAAACAACTTTGAAAAGTTAAATAAAAGAAATTTAAATTTAAAGAAACTCCTCACTTAGTAAGGAATATATGACCAAATAGAAATACATGTATCTTGAAGAATTGAAGAATCAGGCTTTAACGTGGAAGAGGCCTGGATGTTATCCAACCCATCATCTTAGTGTAGCAATGGGGAGGCTCAGGCCCAGAGTGGGCGAGAGAGTTGTCTCCTGCGACTCAGCAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTG
GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAAAGGCTGAGGCATCCTTGGAGGAACAGGCAGACTCCACAGCTCCCGCCAGGAGAAAGGAACATTCTGAGGTATGCTCTGGGGCGCTGGTGGTACCGGAGCTCTCTCCTGACCCCAGACCCAGAATCTGCTCCGTGGAGGCTGTTCACATGCTGGGGAGCTCGGTGCAGCTGCTTGCTCCCCAGACCCCAGCCAACTCAGCCTCTCTCTCCATGATTTTCTGTTGTTTATTCCAAAATAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTCCTGAGTGGGGCGCTGTGCTTCCGGTGAGTGTATGAGGCCCTGGTTTGGTGGTGTCCTCCGGAGGAAGTGAGTTCTGGATAGACCCGTTGTCCAGCTCTGAGCAGGAGGGAGGAAGGGAGGGGCTGCCATTGCAGCTGGGAAATTGTGACCAGCACCTCACTGCTCTTAGAGTTTTCCCAGCCTTTTTCAAATAGGGGCAGGACTGGGGCAGGCCATCTCACAAGGGGTCCCTGATGCTGAGGGGGATAAGTGAACCTCCCAGTCTAGAGCTCCAGCCAAGTCTATCCAAGGTGGGAACGGGGGCCAGGATCCCTGCTCAGAGCTCCGCCATTGTCCCCCATCACAGTGAATGGATGTAAGCTCACCCACTCTGTGCCCCTGCCTCCCTGCTACTCTTTGGGGATAATAATAAAACAAAAACCATTACCATCAGTCAGTCTGTCCACCCACTGGCATGTACCAAGCCAGACACTCTGCCGTGTTCTGGGCTTTACAACAGAGGATGAGAGTGGTCCTTTCTCTCAGTCTAATAAAGCACTTCCCATGATGTGTTCTATGGGACTCGATTAGAGGAGTCCCACAGAGGCATCCAGGAGATGCTTTACACAGTGGAGCTCTCTGATCAAGTAAATGCAGGGAATTCTGCTTTCTACATCCTCTCATAAGAGAACCACAGCCCAGCTCAGCATATGAGTGACTCTGAGGTTTTCTGAAGTAAGGCAACTTGTTGAATTGTATTTAGCCATGCATCGACCCAATTTTTACACTGCATCCTTTTCCCCCATATAACTTTTGGAGAAACCCACTTTAGGATACATCTTCCACCTCATAGGATGCCAGGAAATCAACTGAGTTCAAAGATGAGAAACAACTTTGAAAAGTTAAATAAAAGAAATTTAAATTTAAAGAAACTCCTCACTTAGTAAGGAATATATGACCAAATAGAAATACATGTATCTTGAAGAATTGAAGAATCAGGCTTTAACGTGGAAGAGGCCTGGATGTTATCCAACCCATCATCTTAGTGTAGCAATGGGGAGGCTCAGGCCCAGAGTGGGCGAGAGAGTTGTCTCCTGCGACTCAGCAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCCAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTG
Task1_train_3975
A mutation found in IL36RN (interleukin 36 receptor antagonist) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Acrodermatitis continua suppurativa of Hallopeau
CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGAGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACCAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGACCTGTCACTCACCACTATGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCTCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGCTGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATTTTAATTAAAAGATACCTATTTATATATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTACCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGTAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAATTCACATCCTTCTTGGAATCTCAGTCTGTGAGTTTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGATGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGACCAATAGAATATGGCAGAAGTGATGGCATGCCACTTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCA
CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCAGGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGAGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACCAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGACCTGTCACTCACCACTATGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCTCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGCTGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATTTTAATTAAAAGATACCTATTTATATATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTACCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGTAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAATTCACATCCTTCTTGGAATCTCAGTCTGTGAGTTTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGATGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGACCAATAGAATATGGCAGAAGTGATGGCATGCCACTTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCA
Task1_train_3976
Given this context: Chromosome 2, gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Congenital hypothyroidism
TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGCAGAGAAGTGGGAGGAAAGGCATTCTGTGTGGAGGGCACACAGTGTGCAAGGGCAGAGAGGTGTGAGCGAGGGTGGTGAGCTCGGGGCCATGAGTAATGCAAGAGCATGGGGTGTGCAGGATGAGTGGCCAAAGGTGGGGCTAGGAAATAGTGGCTGAGGTCATTATGTGAAGGCTTTGTGCTACTGCTTCAGAGTTGTGGAACGTGATGTTGCAATCTGGGAAAGACGCTGATGGCAAGGGATAGCATCATCAGGTTGTGCTGCCATCCCTGAAAGGCCCAGGCTCAAAGGTTTTGGGTGAAGGAAGCCAGGAGGGTTAGAAAGGGAGGAAGATGCCAGGGCATCTGGTAAAATAAAGCATGTGTCAGGCTTGGAGTTGCATAAGGCAGGTGCCCTGAGCCCATTGATGCAACTTCCAGCTGCTTTGATGGAGCACAGGCTCATTTGGAGAATAGACCTTCTCTGGCCCTTGCCCACCCTGTTCACCTCCCAGGGCCCAGCTTCTCACCTGCTCGCCTTTGGTGTGGCTGGGGGAGGCATAGGCCTCTGGGTAGTGCTGCCGCTCAAATGGGCACTCGAGCGGCTCGAGGTGGTGCTGGCTGAAGGCATCCGTGCGAAGGTGCTTTCGGGGTCCGCTGCTGCTGCTCTGTGAGTCAATGCTTAGTCGGCAGCTATCCTGATCACCTGGTACCCCCCGGGAAGGAAGAAAGCTTTTAGGGGACCTATCTATTCATGCTCTAGGCCAAAGTAGAGGACTGACTCCAAGCTGACTCACTGTGGAGGGAGAAAAAGGGCCAGCCACGTGGGCCCAGGAGCCTTGGCCAACTGAGGGACAGGACATGTGACAGTCACATGCAGAGCCCCTACAAAGTCCCATATCATAAGTGGAAGGGTTTCTGTCCCCATCAAAGCCTGAGCAAACTGCTCTCGTGCACCGCCCGCTGCCCTCCTGTCCCAGCACTCACTGTCATCCATTTTCCTCTTGTCGCTGCCAGGCTGAGCGATGCCCAGGAGCCCATTGATGGAGTAGGTGGAGCCCAGGGAATCCGACTGGGGTGACTCCGGGGGAGTTACAGCTGAGCTGGGGACTGCAGTGGGGGAGAGGGAGAGGGTCAGGGGTGGGAGTGACACCCCTCACAGCCCTGGGTGACTCTGGGGTAGTTACAGTTGAGCTGGGGACTGCAGGGGCTGGGGGAGAGGGAGAGGAGCAAGGGGTGGGACACCCCTTACAGCCCTGGGGTGACTCTGGGGGGACTGCGGTGGTGGGAAGAGGGAGAGGGTCAGGGAGTGAGAGTGACACCCCTCACAGTCCCTGCTGACACTGTGCAGGAGGCAGCAAGCCGAACCATGGACTGAGCCCTGGAGGGGCTCAGGTCCTTCCTCCAGGGGGCCTCCTGGTGGGAGGGATTCTTGGAGTTAGAGCTGTCTCAAGTGTTTGCACCTCTCCATAGTTCAGTGAATCTGCCCTGGGAACAGGCCAGACTTCGTCGCAGTGGCACAACTCAGTCTACACATGGGTTTGTGAATGGTACTGTGCACAGCTATGTCTGTGTGGGTGTGTCTGTGTGTGCCTCTGTGTATATGTGGGTATGCTGAAGGGGAGGTGTACACGAGCATGTGTGTGTATCCAGGTCTCTCAGCACTCACTCAGCGTGTGTCCGGGACTCAGGGACTTGGTGGCCACGCAGCTGTCCATAGGGAGGTTGAATGGTTGCTGCACTTTGGTCCGGATGATTCTGTGATGAAGAGAAGAAAGGCCATGAGAGAGAAGAGGAGGAAAGAGAACTCATGGCTGCCCCAGACCCAGTCGCCTTTTTGACACCCCTTTTGGGTATCTCCAAGGCACTTGAAACTCAACTGTCCACAGTCAAGTCTGTGACCCTACTCCGCATGCCTAGTCCTCCTCAGTTGTCCGCATTTCATGATTGGTACCATCAGTCACTCAAGGCCAAAACAGAGATGGGGCTTAACCTCTGCTTCCCTCTCTTTCCTATCAAACCCATCATCAAGTTCTGTGTTTTGACCTTGTGAACCTTGCCAACGTTGACCCCTCTCTGCGTCTCTCCATCAGCACCTTAGTGCATGTCATCACCAGTGTTCCAGGGTCACTCAGTGGCCCACGCCCATCCCCTCTTGGCCCTTTCTAAGTGATTCTCCCTACTGCAGCCAGAGTGGACTTTCTGAAATGCAAGTTGGCTTAAAATCTGCCAAGGGTTTCCCATTGCTTTATGACCAAAGGCAAGAAGATATAACACAGCCCCCAGCCTCTGAAAGGTCACCTCTGCTGACATCTTCAACTTCAGCCTACCTTGTGCTCCCCTGCTCTTTATCTACTGGTTTTCTTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCATGTTCAAGTGGTTTTCCTGCTTCAGTCTCCCAAGTAGCTAGGATTACAGGCACTCGCCACCACACCCAGTTAATTTTTGCATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACGCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATCTACTGGTTTTCTTTTGATCCTATTAGCCACAGGGCCTTTGCATAACTGTCTGAGCTCTTTTCACCTAGTTCTCTTATTGTTTTTTACTCAAGGGAAGACTTTCATGAACTTCATAAACCAAATAATCCTGTGCTACCTTGCATATCTTCATGTTCCTTTTCTTAGCAGGACTTACAGCTGCATTTTTACAATATTTTTTGTAGGTAGTTGATTAATATCTGTGTTCTCATTAGACTGTAAGCTCCGCAAAGATGGGCTTTGTGTGTCCCAGGGCCTAGCACAAAATGAATGAGTGAATTATGTGTGAATGAATTAATGAACAAGCGAGTGAGTAAGTAAATGATTGATTGAGGCAGTGAGTGAATCATTGAGGGACTAAACGAATGAATGCTTGAATGTGGGCTGGGTTAGGGGTCTGATGGCTTAGAAAAGGATCAATTCATGAAGATTCTTTTATTGAATGAAAGCAGATGTGGTGTTTGAGGAAGGAAACTGTAGATAGCACACTATGGCTGGGGGCCAGGGGGAGGGTGCCCCATAGCATGGGGCAAGGGAGGAGGCAGGGAGGTATGATATCTGCCTGGAGCCAGGTGTGCTCCCTGCCTGATTGTTCAGCATCAGGCCCCTTCCCGGCCTCTGCTCCACCCAAGCCAGGCCTTTCTTGTCTCTTTCCTGATTTCCCCAAAGCCCAGGGGCCCCAGCCTGACACCAGAGGCTGCTTTCTCTCTTACCTATTAATGGAGCTGACACTGGGCACAGTGTCATTGTCACAGACGCCCTCAGCCAGGAGCCGGTCTCGGATCTCCCAGGCAAACATGGTAGGGTTCTGGCGTTTGTAGTCCCCAATCTTCTCCACCACCTTGGGGGTGGCCACCTTGGGCTTGGAGCCCCCTATCACTCCAGGCCGGATGCTGCCAGTCTCGTAGTACCTACTCCAATAGAGAATCCCAAAGAATTACCCAATAAGCAGGTGGGGTCTTTAGACAGGGATTTAGCCAGAGCCTCCCTCCTCTCTGAGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTA
TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGCAGAGAAGTGGGAGGAAAGGCATTCTGTGTGGAGGGCACACAGTGTGCAAGGGCAGAGAGGTGTGAGCGAGGGTGGTGAGCTCGGGGCCATGAGTAATGCAAGAGCATGGGGTGTGCAGGATGAGTGGCCAAAGGTGGGGCTAGGAAATAGTGGCTGAGGTCATTATGTGAAGGCTTTGTGCTACTGCTTCAGAGTTGTGGAACGTGATGTTGCAATCTGGGAAAGACGCTGATGGCAAGGGATAGCATCATCAGGTTGTGCTGCCATCCCTGAAAGGCCCAGGCTCAAAGGTTTTGGGTGAAGGAAGCCAGGAGGGTTAGAAAGGGAGGAAGATGCCAGGGCATCTGGTAAAATAAAGCATGTGTCAGGCTTGGAGTTGCATAAGGCAGGTGCCCTGAGCCCATTGATGCAACTTCCAGCTGCTTTGATGGAGCACAGGCTCATTTGGAGAATAGACCTTCTCTGGCCCTTGCCCACCCTGTTCACCTCCCAGGGCCCAGCTTCTCACCTGCTCGCCTTTGGTGTGGCTGGGGGAGGCATAGGCCTCTGGGTAGTGCTGCCGCTCAAATGGGCACTCGAGCGGCTCGAGGTGGTGCTGGCTGAAGGCATCCGTGCGAAGGTGCTTTCGGGGTCCGCTGCTGCTGCTCTGTGAGTCAATGCTTAGTCGGCAGCTATCCTGATCACCTGGTACCCCCCGGGAAGGAAGAAAGCTTTTAGGGGACCTATCTATTCATGCTCTAGGCCAAAGTAGAGGACTGACTCCAAGCTGACTCACTGTGGAGGGAGAAAAAGGGCCAGCCACGTGGGCCCAGGAGCCTTGGCCAACTGAGGGACAGGACATGTGACAGTCACATGCAGAGCCCCTACAAAGTCCCATATCATAAGTGGAAGGGTTTCTGTCCCCATCAAAGCCTGAGCAAACTGCTCTCGTGCACCGCCCGCTGCCCTCCTGTCCCAGCACTCACTGTCATCCATTTTCCTCTTGTCGCTGCCAGGCTGAGCGATGCCCAGGAGCCCATTGATGGAGTAGGTGGAGCCCAGGGAATCCGACTGGGGTGACTCCGGGGGAGTTACAGCTGAGCTGGGGACTGCAGTGGGGGAGAGGGAGAGGGTCAGGGGTGGGAGTGACACCCCTCACAGCCCTGGGTGACTCTGGGGTAGTTACAGTTGAGCTGGGGACTGCAGGGGCTGGGGGAGAGGGAGAGGAGCAAGGGGTGGGACACCCCTTACAGCCCTGGGGTGACTCTGGGGGGACTGCGGTGGTGGGAAGAGGGAGAGGGTCAGGGAGTGAGAGTGACACCCCTCACAGTCCCTGCTGACACTGTGCAGGAGGCAGCAAGCCGAACCATGGACTGAGCCCTGGAGGGGCTCAGGTCCTTCCTCCAGGGGGCCTCCTGGTGGGAGGGATTCTTGGAGTTAGAGCTGTCTCAAGTGTTTGCACCTCTCCATAGTTCAGTGAATCTGCCCTGGGAACAGGCCAGACTTCGTCGCAGTGGCACAACTCAGTCTACACATGGGTTTGTGAATGGTACTGTGCACAGCTATGTCTGTGTGGGTGTGTCTGTGTGTGCCTCTGTGTATATGTGGGTATGCTGAAGGGGAGGTGTACACGAGCATGTGTGTGTATCCAGGTCTCTCAGCACTCACTCAGCGTGTGTCCGGGACTCAGGGACTTGGTGGCCACGCAGCTGTCCATAGGGAGGTTGAATGGTTGCTGCACTTTGGTCCAGATGATTCTGTGATGAAGAGAAGAAAGGCCATGAGAGAGAAGAGGAGGAAAGAGAACTCATGGCTGCCCCAGACCCAGTCGCCTTTTTGACACCCCTTTTGGGTATCTCCAAGGCACTTGAAACTCAACTGTCCACAGTCAAGTCTGTGACCCTACTCCGCATGCCTAGTCCTCCTCAGTTGTCCGCATTTCATGATTGGTACCATCAGTCACTCAAGGCCAAAACAGAGATGGGGCTTAACCTCTGCTTCCCTCTCTTTCCTATCAAACCCATCATCAAGTTCTGTGTTTTGACCTTGTGAACCTTGCCAACGTTGACCCCTCTCTGCGTCTCTCCATCAGCACCTTAGTGCATGTCATCACCAGTGTTCCAGGGTCACTCAGTGGCCCACGCCCATCCCCTCTTGGCCCTTTCTAAGTGATTCTCCCTACTGCAGCCAGAGTGGACTTTCTGAAATGCAAGTTGGCTTAAAATCTGCCAAGGGTTTCCCATTGCTTTATGACCAAAGGCAAGAAGATATAACACAGCCCCCAGCCTCTGAAAGGTCACCTCTGCTGACATCTTCAACTTCAGCCTACCTTGTGCTCCCCTGCTCTTTATCTACTGGTTTTCTTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCATGTTCAAGTGGTTTTCCTGCTTCAGTCTCCCAAGTAGCTAGGATTACAGGCACTCGCCACCACACCCAGTTAATTTTTGCATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACGCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATCTACTGGTTTTCTTTTGATCCTATTAGCCACAGGGCCTTTGCATAACTGTCTGAGCTCTTTTCACCTAGTTCTCTTATTGTTTTTTACTCAAGGGAAGACTTTCATGAACTTCATAAACCAAATAATCCTGTGCTACCTTGCATATCTTCATGTTCCTTTTCTTAGCAGGACTTACAGCTGCATTTTTACAATATTTTTTGTAGGTAGTTGATTAATATCTGTGTTCTCATTAGACTGTAAGCTCCGCAAAGATGGGCTTTGTGTGTCCCAGGGCCTAGCACAAAATGAATGAGTGAATTATGTGTGAATGAATTAATGAACAAGCGAGTGAGTAAGTAAATGATTGATTGAGGCAGTGAGTGAATCATTGAGGGACTAAACGAATGAATGCTTGAATGTGGGCTGGGTTAGGGGTCTGATGGCTTAGAAAAGGATCAATTCATGAAGATTCTTTTATTGAATGAAAGCAGATGTGGTGTTTGAGGAAGGAAACTGTAGATAGCACACTATGGCTGGGGGCCAGGGGGAGGGTGCCCCATAGCATGGGGCAAGGGAGGAGGCAGGGAGGTATGATATCTGCCTGGAGCCAGGTGTGCTCCCTGCCTGATTGTTCAGCATCAGGCCCCTTCCCGGCCTCTGCTCCACCCAAGCCAGGCCTTTCTTGTCTCTTTCCTGATTTCCCCAAAGCCCAGGGGCCCCAGCCTGACACCAGAGGCTGCTTTCTCTCTTACCTATTAATGGAGCTGACACTGGGCACAGTGTCATTGTCACAGACGCCCTCAGCCAGGAGCCGGTCTCGGATCTCCCAGGCAAACATGGTAGGGTTCTGGCGTTTGTAGTCCCCAATCTTCTCCACCACCTTGGGGGTGGCCACCTTGGGCTTGGAGCCCCCTATCACTCCAGGCCGGATGCTGCCAGTCTCGTAGTACCTACTCCAATAGAGAATCCCAAAGAATTACCCAATAAGCAGGTGGGGTCTTTAGACAGGGATTTAGCCAGAGCCTCCCTCCTCTCTGAGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTA
Task1_train_3977
With a mutation on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAA
AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCACGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAA
Task1_train_3978
A variant on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCT
GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGTAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCT
Task1_train_3979
This alteration in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTG
TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCCGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTG
Task1_train_3980
Here is a variant affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCC
GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAAAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCC
Task1_train_3981
A mutation on Chromosome 2 affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCGGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
Task1_train_3982
This is a variant in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Congenital hypothyroidism
CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG
CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGTTGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG
Task1_train_3983
This sequence variant lies in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGA
GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGTGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGA
Task1_train_3984
The gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAG
TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCAGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAG
Task1_train_3985
This alteration in GLI2 (GLI family zinc finger 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Holoprosencephaly 9
GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTGGCCACCTCCACCAGGCCCTGGAAAAAGCAGACCCCTTCACCCAGCTCTGTCTGTCTGTCTCTCTCTGTTTCTCTCTGCTCCCTGGAAAGATGGATGGAGCAGGCGCACAGGCGAGCTGGAGCCCCTGGTCGATTATTAACAATTTGTTGCTAAGTAAACCAATAAGAAAAAAATGAAAGCCATTGTCAGGAAGCATTTTTATCATTTGAAAGGCTTTAAAAATGGAAAGTGAGGCTAATATGATAAGATTTCCCTGGAAGTTCAAAGCGCTGGAGATTTCACATGCTCCAGCAGGGGCATCTGTACGCGTGACAGTTGGGCGAGTCGCACAGGGCATGAGGGCCTGGCAGTTTTCTGTCTTCTGGGGCAAGGTGCTGCCAGTGCCTGATGCTTGGCTCTTGGGACAGCCTCTTTTGGTGGCAGAGTTCCACAGCAGAATGTCCAGCAGAACAATATTACAGGCCACAAATGCCAGCTATCCATGTAATTTACATTTCCTAGGAGTGCATTTAAAAGTAAAAAGAAACAGGTGAAGTTAATTTTAATATTTTTTATCCAGCCCAATATATCTGAAATATCATTTAGCAGGTAGTCAATAGAAAAGAAAGTTATTGAGATATTGTATATTCTTTTTTTTCCATTCTAAGTCTTTGAAACTGGTGTGTAGTTTGCACTTCTAGCCCATCCCAGCTCAGGCCAGCCACATTTCAAGTGTGCAAGAGCCCCACATGGGGCAAGTGGTCACTGCATTAGACAGTGTGGGTCTAGAGGTTGTGGGAGGGGGGCTGGGAGGAAGTGAAGACGGGGGAGGAAACTGAGAACAGAGGAGGAAGGGGAGGCCTCTAAGACCTGAGTGTCCTGGCCTCGCCACCAGGCTGGGGAAGTAAACCCAGCCTTACCCGAGATACGCGGCAGGGTTAGTCGTGCTGCGCTGGCTGTCCCAACTCACTTGCCTGGGGCCGTTTTCTCCCAGGATAAGCTTCACACAGTGCCCAGAGCCCACCATTAAGGTCAGTTCTGGCTCCACCACGCCGACTGCCAGGGCCCTGTGCAGGCCACTGAACTCTCTGTGCCTTTGTGGAAAGGGGACAAAGCCATTATCTCATGGGTCAATGCCAAAAATAGAGATAAGCATGTGTTATTTTTCTATTGAAACAAAATATGTTATTTACAAACCTCTGAAACAATAGGGGCAAGCTTAGGAGAGGCTTCTCATGCACCCACTACGGGCACGTTTGCCTCGCTGCGGTTAGTGCCTACTGTTTGCAGCCTGGGAGCGTCATCACACCAGAGCCCAGGCTGCGGTGCACAGGATGGCTTTGCCCAATATAGACGGTCACTTTGAGGACTGATTGGAAAATGCAGGGCAGATAAGCGGCACGCAGTAGGCCTTCATTTAAGGGCAGCTAGTGATGATTCATGAGGAGGCGTGGCCCGGCTCGTAGGGGTGGTCTTGTTGGGTCAGTGGTCTGCGTATAGTAGGTGGGATGGGCAATGAGGAGCACGGTCTGAACATAATAGGTGTGGTCAGCAGGGTGGATGGTCTGCACACAGGTCGGGGAGGGCTGGGGGGGTGCCGGTGCAGGTGGTCAGCTGACAGCAGGGGGTGGTCTGTGGGCCTCTGGCCCTGCTTACCCTCTTCTGGGCATGTCCCTCCGGCAGCACATCAACAACGAGCACATCCACGGGGAGAAGAAGGAGTTTGTGTGCCGCTGGCAGGCCTGCACGCGGGAGCAGAAGCCCTTCAAGGCGCAGTACATGCTGGTGGTGCACATGCGGCGACACACGGGCGAGAAGCCCCACAAGTGCACGGTGAGTGGCCTTCTCCCCACCCCCGCCGCAGCATCAAGACTGGCCTGTCAGCCAGGCCGGGGGGATCATGTTTGGAGGTGGCTGGCCACAGGCACACCTGGGTGGGGCAGACCACAGCAGGGGCTCTGGGACAGGAGCCTGTTCCCACCCTGCCTGTTTGGGTCCTGGAGGCCCCTCGCCTCGTGCCGTCCCAGACCTTGATGGACTTGCTCTCTGGGTGTGAGCATCTCGGTAAGCATGGCAAAAATGTGTGGGTGTGTCTGTGATTGTGAGTCCAAAGGCATATCTGCACCCTGCAGTTTGCTTGGCTGGGTGACGCTGGGAAGAGGGACAGCTCCATAGTGCTCTGCAGAGAAAAAAACATCATTGGTGATTCAGAGCTTGAGCAATGATGGGTTAAAATGGTTGAGGGTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTTTGCTACCCAGGCAGCTCATTGCAGCCTCCACCTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCAACCCAGCTAATTTTTGTATTCTTTTGTAGAGATGGGGTTTTGCCATGTTGCTCTTGAACTCCTGGGCTCAAGCAGTCTGCCTGCATCAGCCTCCCAAAGTGCTGGGATTCGTCTTGAGCCACAGCTCCCAGCTGAGTTATTTTTTTTTTAAGTGAGCTCAATGATAAGACCTTTTCTATGGTCTCCTTTAGAAGGTCAACAGGATTTATGACTATAGTTGGAGAGACTTATTTTTTTAACACACAGAAACTGCTGCCCCACAAATGCACACGTGGTTTCAGCTGTAGCTGAAACATCTGGGAACTCCTTTTTGTGAATTCTTGTTTCATAGATTCTGAGACATACATTTTGTTTTCACCTTAATATCTCTGAAGTCAGACTGTCTTAAAATCAGTGGTGTCCAGGATCCAATGAAATATGCTACCTTTGCTGGCAAGTCAGTTTTTTTATTGAGAAATAGCTGACATACCATAAAGTTCACCCTTTTCGGAAAATGTGCAATTTAGTTGTTTTTAGTACATTCACAGATTTGTACAACAATCACTACTAGTTAATTTCAGAACATTTTCATCACCCCAGAAAGATACCCTGTACTCATTAGCAGCCACTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCTGGACAATTACTAATCTGCTTTCTGTCTGTATGGATTTGCCTGTTCTGGAAATTTCATAAAAACTGAAATCATACAATATGTGCATTTGTGTCTTGCTTCTTTCAGTTAACACGTTTGCAAGGTTCACCTGCGTTGTAGCATGCACGCGTACTTTCTTTCTTTTTGTGGCTGCATAATACTCCATTGTATGGATAGACCATGTTTTGTTTATGCATTCATCAGTTGATGGATATTTGCATTGTATTCACTTTGAGGCTATTATGAATAATGCTGCTATGAACATGTGCGTTCATGTTTTTATATGGACAGAACGTTTTCACTTCTCTTGGGTATGTGTAACTAGGAGTGGAATTGGTGAGTCGTATGGCAGTTGAGGAACTGCTAGTCTGTTTTCCAAAAACGCTGCTCCATTTTACCTTTCCACCCACAATGAATGAGGGTTCTGATTTCTCCAAATCCTCACCAACACTGGTTGTTACCTGTCTTTTTTATTCTAGCCATATCCTAGTGGGTATAAAGTAGTATTTTATTGTGTTTTTGATTAGCACTTCCCTAATTAGTGATTAATAATGTTAAACATCTTTTCAGGTGCTTATTGGCCATTTGCGTATCTTCTCTGGAGAACTGTCTACCCAAATATTGCCCATTTTGAAACCTGGTTGTCTTTTTGCTGTTAAATTGTAAGAATTTTTCATATATCTGGTTACTAGACCCTTGTCAGATAT
GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTGGCCACCTCCACCAGGCCCTGGAAAAAGCAGACCCCTTCACCCAGCTCTGTCTGTCTGTCTCTCTCTGTTTCTCTCTGCTCCCTGGAAAGATGGATGGAGCAGGCGCACAGGCGAGCTGGAGCCCCTGGTCGATTATTAACAATTTGTTGCTAAGTAAACCAATAAGAAAAAAATGAAAGCCATTGTCAGGAAGCATTTTTATCATTTGAAAGGCTTTAAAAATGGAAAGTGAGGCTAATATGATAAGATTTCCCTGGAAGTTCAAAGCGCTGGAGATTTCACATGCTCCAGCAGGGGCATCTGTACGCGTGACAGTTGGGCGAGTCGCACAGGGCATGAGGGCCTGGCAGTTTTCTGTCTTCTGGGGCAAGGTGCTGCCAGTGCCTGATGCTTGGCTCTTGGGACAGCCTCTTTTGGTGGCAGAGTTCCACAGCAGAATGTCCAGCAGAACAATATTACAGGCCACAAATGCCAGCTATCCATGTAATTTACATTTCCTAGGAGTGCATTTAAAAGTAAAAAGAAACAGGTGAAGTTAATTTTAATATTTTTTATCCAGCCCAATATATCTGAAATATCATTTAGCAGGTAGTCAATAGAAAAGAAAGTTATTGAGATATTGTATATTCTTTTTTTTCCATTCTAAGTCTTTGAAACTGGTGTGTAGTTTGCACTTCTAGCCCATCCCAGCTCAGGCCAGCCACATTTCAAGTGTGCAAGAGCCCCACATGGGGCAAGTGGTCACTGCATTAGACAGTGTGGGTCTAGAGGTTGTGGGAGGGGGGCTGGGAGGAAGTGAAGACGGGGGAGGAAACTGAGAACAGAGGAGGAAGGGGAGGCCTCTAAGACCTGAGTGTCCTGGCCTCGCCACCAGGCTGGGGAAGTAAACCCAGCCTTACCCGAGATACGCGGCAGGGTTAGTCGTGCTGCGCTGGCTGTCCCAACTCACTTGCCTGGGGCCGTTTTCTCCCAGGATAAGCTTCACACAGTGCCCAGAGCCCACCATTAAGGTCAGTTCTGGCTCCACCACGCCGACTGCCAGGGCCCTGTGCAGGCCACTGAACTCTCTGTGCCTTTGTGGAAAGGGGACAAAGCCATTATCTCATGGGTCAATGCCAAAAATAGAGATAAGCATGTGTTATTTTTCTATTGAAACAAAATATGTTATTTACAAACCTCTGAAACAATAGGGGCAAGCTTAGGAGAGGCTTCTCATGCACCCACTACGGGCACGTTTGCCTCGCTGCGGTTAGTGCCTACTGTTTGCAGCCTGGGAGCGTCATCACACCAGAGCCCAGGCTGCGGTGCACAGGATGGCTTTGCCCAATATAGACGGTCACTTTGAGGACTGATTGGAAAATGCAGGGCAGATAAGCGGCACGCAGTAGGCCTTCATTTAAGGGCAGCTAGTGATGATTCATGAGGAGGCGTGGCCCGGCTCGTAGGGGTGGTCTTGTTGGGTCAGTGGTCTGCGTATAGTAGGTGGGATGGGCAATGAGGAGCACGGTCTGAACATAATAGGTGTGGTCAGCAGGGTGGATGGTCTGCACACAGGTCGGGGAGGGCTGGGGGGGTGCCGGTGCAGGTGGTCAGCTGACAGCAGGGGGTGGTCTGTGGGCCTCTGGCCCTGCTTACCCTCTTCTGGGCATGTCCCTCCGGCAGCACATCAACAACGAGCACATCCACGGGGAGAAGAAGGAGTTTGTGTGCCGCTGGCAGGCCTGCACGGGGGAGCAGAAGCCCTTCAAGGCGCAGTACATGCTGGTGGTGCACATGCGGCGACACACGGGCGAGAAGCCCCACAAGTGCACGGTGAGTGGCCTTCTCCCCACCCCCGCCGCAGCATCAAGACTGGCCTGTCAGCCAGGCCGGGGGGATCATGTTTGGAGGTGGCTGGCCACAGGCACACCTGGGTGGGGCAGACCACAGCAGGGGCTCTGGGACAGGAGCCTGTTCCCACCCTGCCTGTTTGGGTCCTGGAGGCCCCTCGCCTCGTGCCGTCCCAGACCTTGATGGACTTGCTCTCTGGGTGTGAGCATCTCGGTAAGCATGGCAAAAATGTGTGGGTGTGTCTGTGATTGTGAGTCCAAAGGCATATCTGCACCCTGCAGTTTGCTTGGCTGGGTGACGCTGGGAAGAGGGACAGCTCCATAGTGCTCTGCAGAGAAAAAAACATCATTGGTGATTCAGAGCTTGAGCAATGATGGGTTAAAATGGTTGAGGGTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTTTGCTACCCAGGCAGCTCATTGCAGCCTCCACCTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCAACCCAGCTAATTTTTGTATTCTTTTGTAGAGATGGGGTTTTGCCATGTTGCTCTTGAACTCCTGGGCTCAAGCAGTCTGCCTGCATCAGCCTCCCAAAGTGCTGGGATTCGTCTTGAGCCACAGCTCCCAGCTGAGTTATTTTTTTTTTAAGTGAGCTCAATGATAAGACCTTTTCTATGGTCTCCTTTAGAAGGTCAACAGGATTTATGACTATAGTTGGAGAGACTTATTTTTTTAACACACAGAAACTGCTGCCCCACAAATGCACACGTGGTTTCAGCTGTAGCTGAAACATCTGGGAACTCCTTTTTGTGAATTCTTGTTTCATAGATTCTGAGACATACATTTTGTTTTCACCTTAATATCTCTGAAGTCAGACTGTCTTAAAATCAGTGGTGTCCAGGATCCAATGAAATATGCTACCTTTGCTGGCAAGTCAGTTTTTTTATTGAGAAATAGCTGACATACCATAAAGTTCACCCTTTTCGGAAAATGTGCAATTTAGTTGTTTTTAGTACATTCACAGATTTGTACAACAATCACTACTAGTTAATTTCAGAACATTTTCATCACCCCAGAAAGATACCCTGTACTCATTAGCAGCCACTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCTGGACAATTACTAATCTGCTTTCTGTCTGTATGGATTTGCCTGTTCTGGAAATTTCATAAAAACTGAAATCATACAATATGTGCATTTGTGTCTTGCTTCTTTCAGTTAACACGTTTGCAAGGTTCACCTGCGTTGTAGCATGCACGCGTACTTTCTTTCTTTTTGTGGCTGCATAATACTCCATTGTATGGATAGACCATGTTTTGTTTATGCATTCATCAGTTGATGGATATTTGCATTGTATTCACTTTGAGGCTATTATGAATAATGCTGCTATGAACATGTGCGTTCATGTTTTTATATGGACAGAACGTTTTCACTTCTCTTGGGTATGTGTAACTAGGAGTGGAATTGGTGAGTCGTATGGCAGTTGAGGAACTGCTAGTCTGTTTTCCAAAAACGCTGCTCCATTTTACCTTTCCACCCACAATGAATGAGGGTTCTGATTTCTCCAAATCCTCACCAACACTGGTTGTTACCTGTCTTTTTTATTCTAGCCATATCCTAGTGGGTATAAAGTAGTATTTTATTGTGTTTTTGATTAGCACTTCCCTAATTAGTGATTAATAATGTTAAACATCTTTTCAGGTGCTTATTGGCCATTTGCGTATCTTCTCTGGAGAACTGTCTACCCAAATATTGCCCATTTTGAAACCTGGTTGTCTTTTTGCTGTTAAATTGTAAGAATTTTTCATATATCTGGTTACTAGACCCTTGTCAGATAT
Task1_train_3986
This variant impacts the gene BIN1 (bridging integrator 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Myopathy, centronuclear, 2
GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAAGTGTGAGGGCCACATCCAGGCTGTGACTACACTGACCTGAAATGTGCCTCAGTTTCATTGGCGAGAAAACCACATGACCCACCTCTCACAGGGCACTGCATCCAGTGGTCCCTGGCCACACTGTAACCCATTTGGAGGGCAGGGGGCTGAGAAGACCATAGCCTCTATGGCCAGGATGGTGAGATGGCCCAGGAGTTTTGTAAAAAAGCCTCCTCCGGGAAGCCCCCCAGGAACACTGTGGTGCTGGTCACTTGCCCTCCATGAATCCCCAAAGGCCAAGGACCCATGCTTCCCCTCCACGTCTCAGCATCCCATCCAGACTGGAGGGTCCTCCCAGTAACTCCTCCAGAGTCACCACGGGGACCACAAGTCCGAGGAAAATGACGCAGGGGCTTCAGTCAGGAGAGCCCCAACCCTGCCCCTAACCGGCTCTGGGGCCCTGGGAGGAGGCTGTGATGTGCCTCTCTGGGCAGCTTTCTCTGCTCAGTAAATTCAAGATGATCTCAGAGTTGTCATGTGGCTTGAAGGACAGGCATGGCAGTACAGGGGCCTGATGATGTCGCCTCCCTCCCCAGAGGAGCCCTCACAGAGGACAATGGCTCAAAGGCATTCCTGGACCACTAGGATTTCAGAGGAGTCTCCAGGAATGACCACAGATGCAGCCACGGAGCGGGCATAGCTATGCCCCCACCCAGGTCACACAGAGCCCCTCAGCCGGTTCTTTGACCCCTACATTTGACTTCAGGTCTCCTCTGAAGCAGAGCTCTCCCAGCAGAGGCCTTTGAAAAACCCTGCCCCAGCTGGGCTCAGATGCCAGCCCTGCATTCCACCGCAGGGCGAGAGGACAGGACGACAGACCGGAAGGCGCCAGCACGTGCAAGGTTAGAAGCCAGTGTCACCTGATTTCGGAGCAGGTTAGTTTGAGCTACGAGATGAGCCTGCAGTTTGCCTTGGCACCACTGGGGGGCGGCTTTCTCAAGCAGCGAGACAGGCTGGGGTGGGGAGGTCAAGGCAAAGGAAGGTGGAGAGACCAGGGAGGTGGGGAGAGAGAAACAGAGACACACAGATTAAATGCAGGTCCACACGCCCCACGCGCGGGGGCCACCCCAAGCAGATATGGGCCCTTGAGGCCGAGAGAATTAGGGGGAGCCCGGGGGGTAAGGAAAGGGGGTGAACTCCAACTGCAGAGGCAAAAGGTGAGCGTGGTTAGCAGCACAGGGGGCCCAGCAAGCACGGCCCTGCCCGGAGGACGGGGCCACCCCAGCCCCTCACCAAAGGATGAGTGGGGCCAGCTCTGCACCTACTGGCTCGCTCCAGCCAGGGACAGGTCGCCTGGGATCGCGTGACGAATTCCACCCGGCTCGCCAGGCAGGGCGGCGCCGTTCCAGGGAAACCCAGGAGGCCCATTCTCAGGCTGGCAGGTGGCCTGGATCAGGGCTGAGGGGCCAGGGTGGCACGGGGGGCAGGAATGGGCCTAGGGTGGACCTCACCCAGGCACCCACAAGGGCCTCTCACTCACCGGCCTGGGCCCTGTATCGTCCCCACCCCCAGTTCAGCCACCTGGGGCCAGGCAGGAGGAAGCCTCCACCCTCGGGGTCCTAGACACCCGCCCTCTCTCAGCCCCCTGCAGACGCTGCCCCGACCCGCCTCCAGCCCTTACCTTGGCAATTTTGGCTTCATCCTTCTTTTTGGCAGTTTGAAGGGACTCGTAGTGGTGCCGGGCACTGTCGTAGTCCACCAGCTTGCGCCCCCGCTTGGCAATGCGTGACTGGGGCAGACAGAGGAGGGCACTAAGCGGGGCCTGGCACCCCTGCTGAGACTCCAGGTCCAGTGGATCCTGGAGGGACCCGCAGGGCGGGCAGGAGACCCCAGCTCCACAGGAACCCTTGAGCCCTTGTTGCTGGAACCCTCCTCGTGGCAGAGAGCTCACCCCCTCCTGGCCGTCCAGCCCCACTGTGTGAAACCACTTCCTTGCACATGAGCCCATGTGTCCGTGTCCACCAGCTGGTGACGTGTCAGCCAAGTCTTTTCCTTGGCCTGGCCCCTGGCTTCTCATCTCCACAGCCACCAACATCAGACTCAGGGAGCTTGAGGCATCTGCACTGGGGACCCCTGAGGCTAGCATGAGCATGACACCCCCATCCTGCCCACCAAGGGGATCTCGTCCAACCCAATGGTCAACCCAGGCTTCCATGTGCACGTTACCGGGGACCACTCGCCTCGGTGGATACCAGAGACACTGCCAGCTCCGAGCACCAACCCAGGCCTGGCAGAGACAGCAGGCTTTGCGAATGCACACAACCACACGCACACACCCACACATGTAGACCCAGACAACAGGTGACATGCACACATACCCTTCCAAGCACCCATGGTGTAAACACAGGGGACCTGCAGGCACACACATGTGTAGGCCCTACTCACCCTTCTACACCTTCCACAATCATATAGCCAGCCACTCCGCAGCAACACACACACACACACACACACACACACACACACGTGCCGTGAGGCTTCCTCCCATAGCCCTGAGACCCAAAGGGACAGGAAAGGAATGGGGGGCCGTGGGCTGGTGGCAGAGGGAGCAACCCCGGAGGGGTGAAACACCGGGCCAGGCGCTTCCTGCCTCCAGGACAGCCTCCTCCTGGCCTGAGCCGCACGTCCTAGGCCCTGTCCTCTCTCCAGTTCCCTCCAGGCCAGAGCAGGGCAGATCTGCAAGTGGGTCTCTCACCTTGATGTCGGGGAACTGGCCCAGGTACGTGTCCATGGTCAGCAGCGCCTGGTCCACCAGCTTCTGGTGGTAATCCATCCACAGCAGGTCGTTGTTCTGAGACAGGCAAGAGCACGACAGTGCCACCAGGAGGGCTGGGCCACACCCGCCCCAGCGCTCACCTCGCAGGGACCAGCCCCAGCCCCATCTCTTCACAGCTCAGTGGCTTCTCAGAGCCTCAGTTTCCCCATCTGTAAGATGGGGGCAAATGTTCCTGCCCTATTGGGGTGACTGTGAGGATCAGATACGCTGAGGACTGGGGTCAGCCAGGGAGGCTTTGTGAGTTGTGAGCCATAACACACAAATAAGGACGACCACGACCCACCATCTGACCCACCTTGGTGTGAGGGCGTGTCAGGAGAAAGGCCCTCAGAGAGGGAGGGCAGCTTGCCCCAGGGCACACAGCACGCGAATGCCCGAGAACCAGAGAGGCTTGTCCCAGAGGGCACGGCAGAGTGGGACAGGAGCTGAGACCAGAGGGCCCTCTGAGAAGGGCAGGCCCACCTGTCCCATGCTCACCTCTGCGATCTTGTTTGCCTCATCCCTGCCGGGCCAATCGGGCTCATACACCTCCTGCAGACACTCATTCAGCTTCTTGGAAGCCTCGTGCATGGCTGTGGGGCAGAAAGGAAGTATGTGGGCCTCCCACTGATAGCGCTTGTCCCACCCTCCCCAGCTCTGCACCCACCAGCTCTACACGGGCCAGGTGCGCTCTGCCTGCCTCCTACCTTTGACGGAGGCCAGGTAGGTCCGGAGATCCTTCTGCAGCCGGGTGCCCTCCGTCTGCAAAGAGAAGGACAAGGACCAGGTCAGGGACTGGTGGCACACCCAGTCCCTGACCCTCTCCTTCCTGCCACCCTCACGTGAATGAACCAGGCTGCTCTCCTGACAGCAGCCACTGATCAGCTGACCTCCCAACAGGACAGCAGCTACGGTCACCACCCCTGCCTCAGAAGCCCTGCGTCCATAGGCACCCTTGCCCATGCTTGTGGGCACCTGCCATCTT
GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAAGTGTGAGGGCCACATCCAGGCTGTGACTACACTGACCTGAAATGTGCCTCAGTTTCATTGGCGAGAAAACCACATGACCCACCTCTCACAGGGCACTGCATCCAGTGGTCCCTGGCCACACTGTAACCCATTTGGAGGGCAGGGGGCTGAGAAGACCATAGCCTCTATGGCCAGGATGGTGAGATGGCCCAGGAGTTTTGTAAAAAAGCCTCCTCCGGGAAGCCCCCCAGGAACACTGTGGTGCTGGTCACTTGCCCTCCATGAATCCCCAAAGGCCAAGGACCCATGCTTCCCCTCCACGTCTCAGCATCCCATCCAGACTGGAGGGTCCTCCCAGTAACTCCTCCAGAGTCACCACGGGGACCACAAGTCCGAGGAAAATGACGCAGGGGCTTCAGTCAGGAGAGCCCCAACCCTGCCCCTAACCGGCTCTGGGGCCCTGGGAGGAGGCTGTGATGTGCCTCTCTGGGCAGCTTTCTCTGCTCAGTAAATTCAAGATGATCTCAGAGTTGTCATGTGGCTTGAAGGACAGGCATGGCAGTACAGGGGCCTGATGATGTCGCCTCCCTCCCCAGAGGAGCCCTCACAGAGGACAATGGCTCAAAGGCATTCCTGGACCACTAGGATTTCAGAGGAGTCTCCAGGAATGACCACAGATGCAGCCACGGAGCGGGCATAGCTATGCCCCCACCCAGGTCACACAGAGCCCCTCAGCCGGTTCTTTGACCCCTACATTTGACTTCAGGTCTCCTCTGAAGCAGAGCTCTCCCAGCAGAGGCCTTTGAAAAACCCTGCCCCAGCTGGGCTCAGATGCCAGCCCTGCATTCCACCGCAGGGCGAGAGGACAGGACGACAGACCGGAAGGCGCCAGCACGTGCAAGGTTAGAAGCCAGTGTCACCTGATTTCGGAGCAGGTTAGTTTGAGCTACGAGATGAGCCTGCAGTTTGCCTTGGCACCACTGGGGGGCGGCTTTCTCAAGCAGCGAGACAGGCTGGGGTGGGGAGGTCAAGGCAAAGGAAGGTGGAGAGACCAGGGAGGTGGGGAGAGAGAAACAGAGACACACAGATTAAATGCAGGTCCACACGCCCCACGCGCGGGGGCCACCCCAAGCAGATATGGGCCCTTGAGGCCGAGAGAATTAGGGGGAGCCCGGGGGGTAAGGAAAGGGGGTGAACTCCAACTGCAGAGGCAAAAGGTGAGCGTGGTTAGCAGCACAGGGGGCCCAGCAAGCACGGCCCTGCCCGGAGGACGGGGCCACCCCAGCCCCTCACCAAAGGATGAGTGGGGCCAGCTCTGCACCTACTGGCTCGCTCCAGCCAGGGACAGGTCGCCTGGGATCGCGTGACGAATTCCACCCGGCTCGCCAGGCAGGGCGGCGCCGTTCCAGGGAAACCCAGGAGGCCCATTCTCAGGCTGGCAGGTGGCCTGGATCAGGGCTGAGGGGCCAGGGTGGCACGGGGGGCAGGAATGGGCCTAGGGTGGACCTCACCCAGGCACCCACAAGGGCCTCTCACTCACCGGCCTGGGCCCTGTATCGTCCCCACCCCCAGTTCAGCCACCTGGGGCCAGGCAGGAGGAAGCCTCCACCCTCGGGGTCCTAGACACCCGCCCTCTCTCAGCCCCCTGCAGACGCTGCCCCGACCCGCCTCCAGCCCTTACCTTGGCAATTTTGGCTTCATCCTTCTTTTTGGCAGTTTGAAGGGACTCGTAGTGGTGCCGGGCACTGTTGTAGTCCACCAGCTTGCGCCCCCGCTTGGCAATGCGTGACTGGGGCAGACAGAGGAGGGCACTAAGCGGGGCCTGGCACCCCTGCTGAGACTCCAGGTCCAGTGGATCCTGGAGGGACCCGCAGGGCGGGCAGGAGACCCCAGCTCCACAGGAACCCTTGAGCCCTTGTTGCTGGAACCCTCCTCGTGGCAGAGAGCTCACCCCCTCCTGGCCGTCCAGCCCCACTGTGTGAAACCACTTCCTTGCACATGAGCCCATGTGTCCGTGTCCACCAGCTGGTGACGTGTCAGCCAAGTCTTTTCCTTGGCCTGGCCCCTGGCTTCTCATCTCCACAGCCACCAACATCAGACTCAGGGAGCTTGAGGCATCTGCACTGGGGACCCCTGAGGCTAGCATGAGCATGACACCCCCATCCTGCCCACCAAGGGGATCTCGTCCAACCCAATGGTCAACCCAGGCTTCCATGTGCACGTTACCGGGGACCACTCGCCTCGGTGGATACCAGAGACACTGCCAGCTCCGAGCACCAACCCAGGCCTGGCAGAGACAGCAGGCTTTGCGAATGCACACAACCACACGCACACACCCACACATGTAGACCCAGACAACAGGTGACATGCACACATACCCTTCCAAGCACCCATGGTGTAAACACAGGGGACCTGCAGGCACACACATGTGTAGGCCCTACTCACCCTTCTACACCTTCCACAATCATATAGCCAGCCACTCCGCAGCAACACACACACACACACACACACACACACACACACGTGCCGTGAGGCTTCCTCCCATAGCCCTGAGACCCAAAGGGACAGGAAAGGAATGGGGGGCCGTGGGCTGGTGGCAGAGGGAGCAACCCCGGAGGGGTGAAACACCGGGCCAGGCGCTTCCTGCCTCCAGGACAGCCTCCTCCTGGCCTGAGCCGCACGTCCTAGGCCCTGTCCTCTCTCCAGTTCCCTCCAGGCCAGAGCAGGGCAGATCTGCAAGTGGGTCTCTCACCTTGATGTCGGGGAACTGGCCCAGGTACGTGTCCATGGTCAGCAGCGCCTGGTCCACCAGCTTCTGGTGGTAATCCATCCACAGCAGGTCGTTGTTCTGAGACAGGCAAGAGCACGACAGTGCCACCAGGAGGGCTGGGCCACACCCGCCCCAGCGCTCACCTCGCAGGGACCAGCCCCAGCCCCATCTCTTCACAGCTCAGTGGCTTCTCAGAGCCTCAGTTTCCCCATCTGTAAGATGGGGGCAAATGTTCCTGCCCTATTGGGGTGACTGTGAGGATCAGATACGCTGAGGACTGGGGTCAGCCAGGGAGGCTTTGTGAGTTGTGAGCCATAACACACAAATAAGGACGACCACGACCCACCATCTGACCCACCTTGGTGTGAGGGCGTGTCAGGAGAAAGGCCCTCAGAGAGGGAGGGCAGCTTGCCCCAGGGCACACAGCACGCGAATGCCCGAGAACCAGAGAGGCTTGTCCCAGAGGGCACGGCAGAGTGGGACAGGAGCTGAGACCAGAGGGCCCTCTGAGAAGGGCAGGCCCACCTGTCCCATGCTCACCTCTGCGATCTTGTTTGCCTCATCCCTGCCGGGCCAATCGGGCTCATACACCTCCTGCAGACACTCATTCAGCTTCTTGGAAGCCTCGTGCATGGCTGTGGGGCAGAAAGGAAGTATGTGGGCCTCCCACTGATAGCGCTTGTCCCACCCTCCCCAGCTCTGCACCCACCAGCTCTACACGGGCCAGGTGCGCTCTGCCTGCCTCCTACCTTTGACGGAGGCCAGGTAGGTCCGGAGATCCTTCTGCAGCCGGGTGCCCTCCGTCTGCAAAGAGAAGGACAAGGACCAGGTCAGGGACTGGTGGCACACCCAGTCCCTGACCCTCTCCTTCCTGCCACCCTCACGTGAATGAACCAGGCTGCTCTCCTGACAGCAGCCACTGATCAGCTGACCTCCCAACAGGACAGCAGCTACGGTCACCACCCCTGCCTCAGAAGCCCTGCGTCCATAGGCACCCTTGCCCATGCTTGTGGGCACCTGCCATCTT
Task1_train_3987
Given a variant located on Chromosome 2 and affecting BIN1 (bridging integrator 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Myopathy, centronuclear, 2
GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCTACAGTGCCCGGCCAGCTCAGCCTGTTCTAAGGGGCCCCCACCACCTCCACCCCTAACCTGTCTCCCCAGCCTAGCCAGCTGCCCTCAGGACAAGGGATCAGCTCCAGAGAGGAAACTCGATAGTGAACCAAAGGCCACAGAGCCTGGATTTCAATCCCCAACACCCACACCAGCTACATAGCCTTGGAAGATGTGCTTAACTTCTCTGAGCCTCAAGTGCCTCATCTGCAAAATGAGAATATCAGCCCCATCTCAAGGATTGCATAGATCTCTGTCAAACACAGCAGCTCTGGCCCATGGCCACAGCAACTCCCTAAAGGTCCTTCAGAGCAACCCACAGCCTGATGAAGCCAGCTGAGTAGGGACATGCCCTGGGGCTTCCCAGAGATGGAATCAGAACCTAAGACCAGGTTTCTTGTTCAAGCCTCTATTCTGCAGGTGAGGAAACTGAGGCCCAAGAAGCTCTGGGAAGGAATTGCCCAGAGCCACAGAGGCAGTAGATATCCCTGCCACAGGGTCTACCTGGGCCTTGAAACTCCTCCCATAACTGGCCTAAAGGACAATCAGCTAAGGGGGCTCCCCAATCCCTGTCCAGGGAAGCCTGTCAGGCTGAGCCCCTCTGGCAAGCCAAGGCCAACTTGGCCCTGGGGCCTCTCCCCTCTGCTCCCAGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCTCCCAGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCCACCACCCTCTCCCAGAATGCTCCCGGCCCTCCCAGCTGCCCCCCCCACCGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGTTGTTCCCTGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCAACCGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGTTGCTCCTGGTCCTGTCCCAGAATGCTCCCAGCTCTCCCAGCTGCTCCCCAGCCCTCTCCCAAATGCTCCCGGCCCTCTCCCAGCTACTCCCGGCCCTCGCAGCTGCTCCCAGTCCTCTCCCAGCTACTCCCAGGCCCTCCCAGCTGCTCCCCAGCCCTCCCAGCTGCCCTCAGCCCTCTCTCAAATGCTCCCAGGCCAATTGGAGATGGCTGCGGATGCCTCCCCACAGCCCAGCCTTGAGCCTGCCACACAGCCAGGCACACACCATGCTCAGCAGATGCCCAAATCAAACCCAGCCTGCTCCGCCCCCATGCTAACCGCTGCAGATGCCACTCTCCTGGCAAGAAGCTTCTATAGCTCCCACTTGCCCCTGACATGCAAAGTTTCCCCAAGTCTGGCCACAATCTATTGCCTGCTCCTATCCCACCCTCCCCCTCCCCCTCCCCCAACTACCGTTTCTATGTCTCCTACCAAGAACCTAAAGCATACATACCCCATCCCTCTTCCTTCCCAGCATGCATTGCCAGTGCTCCCTCCTCTAGGAAGTCTTACATGATCTTGTCAGCCCACACTGATTACCCTCCTCCAAGCTCTCGTACTCCACAAATTCAGCTCGTGCCATTTTTCACCTGGCAGCCGAATTTTCACAAACTCCCTAAGGCCAAGGGCCACCCACACTCACCAGCTGCTTGTTGAAATTCTGGACGCACTGCTCAAACTGCTCATCCTTGGTCTCATCTGCCTTCCCCAGCTTCTGGAGAACCTGCCGAAGCCAAGAGAGAAGGGGAGAGTGTTACCTTGGAAAGGAGAGTGGTCAAACCAAGAGTGCTCAGTCACCAACAGCACAGACCAGGGGCTGGGAAGTCTCTAGCCAACATCACCCAGCCCAGGGTGCCCACCCAGGGCTGCAATCCCAGGGCATGGCTGGGTCCATCAGGTTTTCAGGCCTCCCCACCCTCTACCCAGGGCTCGACAATAGGCCAAAAATGGAGCTTAGGACAGGCTTGACGTAGTGACCACAGCCAGGAGGAGGGAGGCTTCAAAGATGGCAAGAAGGATCGGGCACCCTCCTAGCTGATCTCACACTGCACCCCTGGGTGCTCCGCCCCCACCCTGGAAGCTGAAAAGTGAGCCACGCAGGGGAGGGGCCAAGCAGGAGCAGCCTCACTTCTCCGCATGACTCTATTCCCTGGGCCCAGGCCCATGAATGCCACAGGCAACAGCAGAGCAGGCCCTGAACCGGCAGGAGCCATCCCGGAACAAGGAGGGCAGCGAGCGGTGGCCAGGAGCTGCCGGGGGCCACGCAGAGTCTGCTTCTGATCTGACTGGGTTTTTAGATGTGACCTGCCCCAGGCACTCTGCTCTGCACAGCCCACACACACACACACACACACAAAACACACAAGGGCACACACATGAGCTCACAGCTCTGCTCCCAACCATGAGTCTCAGAGGTGGACTCCCCCTCAACCCCCCACGATGAGTGGCAGGGGGAGATGAAGGATGGGTGGGCAAGGGCAGAGAAGAGGAGCCACACCAGGAGAGGGGAAAGCTCTAGGAAAGGAGGGCGCTGGCCAGGACCCTGAGAACATATGCTGACCATCACGCTCTCCCAGACTTCCCTCTCTGGGCCCTGCTCCTCCAATCCCAGAGCTCCACATGACGGAGAGAGAGGTGGGAGCAGGGAGACAAAATACAGAGGCAAGGAGCGGTGGTGGGGCACGGTAGGAAAGAGCAGGAGAAGAAAAAGACAAAGAGCTGGGGCACAGAAAAGGGATGAGGAGTGCCAGATGGGTTTGCAGGAGAGCAGAGGGGAAGACCAGGGTGGCGGCGGGACACACCCGTCTGCAGCCAAAGAGGCACCTCCATCAGGGCGGCAGAAAGGCCAACACTGATGTCTCAGCAGAGGCCTCTCCCAGGCAGTGGGCAAGACCTCACAAGAATGAGAAGGAAACGGGGGTAGGGGATGGGAGTGGAAAGCAAAGGGAGAAAAAGGTGGGCCCAGGAGCGGTGGGGAGCCCCAGGAGCAAAGGGCCAGCCCAGCATCTGCTGAGGCCAGTAGGTCTGCAGACATCCCTCCCTTCCAAGACCCGGAGCCAGCCCATGCTGCCAGGAACATCAGCTTTGGGGCCCAGGGCCCAGGCCACGGTCCTGGACCAACGGATGCCTGGTACCAGGACACAGCCAGGACCCTTCCCACCCTGCCGGCCCTTGCAGGTCCTGTGCTGCCCTGCTGCACTTCCCCCCCCAGCCAGGCCCAGAAGCCTTGGCAAGGCCAGCTGCTCTTGGCCATCTCTCACCAAGCACTTGCTCTGTGCCTGGCCTTGGGCACCTTGGCCGGTACAGCAGAGAGGAATCAGATGTGGGTCTCTGTCCTGACATGGGGGAACACTTAAGGCTGTGGGACCCTGGGGGTAGAGATCTCTTCTAGCCTGGGCAGTCAGTGAGACTTCCTGGAGTGGGTGGCAGCTCAGACAGAGGGGAGAGGTTGCAACAAAGGTAAGGAGACCAGAAAGATGGAGCATCTTACTGGGGAGTTTTGAATTGCTCAAGGTGACTAGAGGTCACAGAGGATGGAGTGGGAAAGTGAGAGTGGCAGCAGGGGGCAGGTGGGCACCGGGAGGCAGCCACCGATGATGTTGTGCTACAGCGGTCGGGACACAGCCCCTTGGGCAACTGCAGCTGGATGCCAAGGGCTGACACAGGGATGAGAGAAAAACCAAAACAAAACCCCCACATGAGCAAGAAAATGTACACTGCACAACTTGCAGGCTCCCCACTGCTGCCCCT
GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCTACAGTGCCCGGCCAGCTCAGCCTGTTCTAAGGGGCCCCCACCACCTCCACCCCTAACCTGTCTCCCCAGCCTAGCCAGCTGCCCTCAGGACAAGGGATCAGCTCCAGAGAGGAAACTCGATAGTGAACCAAAGGCCACAGAGCCTGGATTTCAATCCCCAACACCCACACCAGCTACATAGCCTTGGAAGATGTGCTTAACTTCTCTGAGCCTCAAGTGCCTCATCTGCAAAATGAGAATATCAGCCCCATCTCAAGGATTGCATAGATCTCTGTCAAACACAGCAGCTCTGGCCCATGGCCACAGCAACTCCCTAAAGGTCCTTCAGAGCAACCCACAGCCTGATGAAGCCAGCTGAGTAGGGACATGCCCTGGGGCTTCCCAGAGATGGAATCAGAACCTAAGACCAGGTTTCTTGTTCAAGCCTCTATTCTGCAGGTGAGGAAACTGAGGCCCAAGAAGCTCTGGGAAGGAATTGCCCAGAGCCACAGAGGCAGTAGATATCCCTGCCACAGGGTCTACCTGGGCCTTGAAACTCCTCCCATAACTGGCCTAAAGGACAATCAGCTAAGGGGGCTCCCCAATCCCTGTCCAGGGAAGCCTGTCAGGCTGAGCCCCTCTGGCAAGCCAAGGCCAACTTGGCCCTGGGGCCTCTCCCCTCTGCTCCCAGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCTCCCAGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCCACCACCCTCTCCCAGAATGCTCCCGGCCCTCCCAGCTGCCCCCCCCACCGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGTTGTTCCCTGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCAACCGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGTTGCTCCTGGTCCTGTCCCAGAATGCTCCCAGCTCTCCCAGCTGCTCCCCAGCCCTCTCCCAAATGCTCCCGGCCCTCTCCCAGCTACTCCCGGCCCTCGCAGCTGCTCCCAGTCCTCTCCCAGCTACTCCCAGGCCCTCCCAGCTGCTCCCCAGCCCTCCCAGCTGCCCTCAGCCCTCTCTCAAATGCTCCCAGGCCAATTGGAGATGGCTGCGGATGCCTCCCCACAGCCCAGCCTTGAGCCTGCCACACAGCCAGGCACACACCATGCTCAGCAGATGCCCAAATCAAACCCAGCCTGCTCCGCCCCCATGCTAACCGCTGCAGATGCCACTCTCCTGGCAAGAAGCTTCTATAGCTCCCACTTGCCCCTGACATGCAAAGTTTCCCCAAGTCTGGCCACAATCTATTGCCTGCTCCTATCCCACCCTCCCCCTCCCCCTCCCCCAACTACCGTTTCTATGTCTCCTACCAAGAACCTAAAGCATACATACCCCATCCCTCTTCCTTCCCAGCATGCATTGCCAGTGCTCCCTCCTCTAGGAAGTCTTACATGATCTTGTCAGCCCACACTGATTACCCTCCTCCAAGCTCTCGTACTCCACAAATTCAGCTCGTGCCATTTTTCACCTGGCAGCCGAATTTTCACAAACTCCCTAAGGCCAAGGGCCACCCACACTCACCAGCTGCTTGTTGAAATTCTGGACGCACTGCTCAAACTGCTCATCCTTGGTCTCATCTGCATTCCCCAGCTTCTGGAGAACCTGCCGAAGCCAAGAGAGAAGGGGAGAGTGTTACCTTGGAAAGGAGAGTGGTCAAACCAAGAGTGCTCAGTCACCAACAGCACAGACCAGGGGCTGGGAAGTCTCTAGCCAACATCACCCAGCCCAGGGTGCCCACCCAGGGCTGCAATCCCAGGGCATGGCTGGGTCCATCAGGTTTTCAGGCCTCCCCACCCTCTACCCAGGGCTCGACAATAGGCCAAAAATGGAGCTTAGGACAGGCTTGACGTAGTGACCACAGCCAGGAGGAGGGAGGCTTCAAAGATGGCAAGAAGGATCGGGCACCCTCCTAGCTGATCTCACACTGCACCCCTGGGTGCTCCGCCCCCACCCTGGAAGCTGAAAAGTGAGCCACGCAGGGGAGGGGCCAAGCAGGAGCAGCCTCACTTCTCCGCATGACTCTATTCCCTGGGCCCAGGCCCATGAATGCCACAGGCAACAGCAGAGCAGGCCCTGAACCGGCAGGAGCCATCCCGGAACAAGGAGGGCAGCGAGCGGTGGCCAGGAGCTGCCGGGGGCCACGCAGAGTCTGCTTCTGATCTGACTGGGTTTTTAGATGTGACCTGCCCCAGGCACTCTGCTCTGCACAGCCCACACACACACACACACACACAAAACACACAAGGGCACACACATGAGCTCACAGCTCTGCTCCCAACCATGAGTCTCAGAGGTGGACTCCCCCTCAACCCCCCACGATGAGTGGCAGGGGGAGATGAAGGATGGGTGGGCAAGGGCAGAGAAGAGGAGCCACACCAGGAGAGGGGAAAGCTCTAGGAAAGGAGGGCGCTGGCCAGGACCCTGAGAACATATGCTGACCATCACGCTCTCCCAGACTTCCCTCTCTGGGCCCTGCTCCTCCAATCCCAGAGCTCCACATGACGGAGAGAGAGGTGGGAGCAGGGAGACAAAATACAGAGGCAAGGAGCGGTGGTGGGGCACGGTAGGAAAGAGCAGGAGAAGAAAAAGACAAAGAGCTGGGGCACAGAAAAGGGATGAGGAGTGCCAGATGGGTTTGCAGGAGAGCAGAGGGGAAGACCAGGGTGGCGGCGGGACACACCCGTCTGCAGCCAAAGAGGCACCTCCATCAGGGCGGCAGAAAGGCCAACACTGATGTCTCAGCAGAGGCCTCTCCCAGGCAGTGGGCAAGACCTCACAAGAATGAGAAGGAAACGGGGGTAGGGGATGGGAGTGGAAAGCAAAGGGAGAAAAAGGTGGGCCCAGGAGCGGTGGGGAGCCCCAGGAGCAAAGGGCCAGCCCAGCATCTGCTGAGGCCAGTAGGTCTGCAGACATCCCTCCCTTCCAAGACCCGGAGCCAGCCCATGCTGCCAGGAACATCAGCTTTGGGGCCCAGGGCCCAGGCCACGGTCCTGGACCAACGGATGCCTGGTACCAGGACACAGCCAGGACCCTTCCCACCCTGCCGGCCCTTGCAGGTCCTGTGCTGCCCTGCTGCACTTCCCCCCCCAGCCAGGCCCAGAAGCCTTGGCAAGGCCAGCTGCTCTTGGCCATCTCTCACCAAGCACTTGCTCTGTGCCTGGCCTTGGGCACCTTGGCCGGTACAGCAGAGAGGAATCAGATGTGGGTCTCTGTCCTGACATGGGGGAACACTTAAGGCTGTGGGACCCTGGGGGTAGAGATCTCTTCTAGCCTGGGCAGTCAGTGAGACTTCCTGGAGTGGGTGGCAGCTCAGACAGAGGGGAGAGGTTGCAACAAAGGTAAGGAGACCAGAAAGATGGAGCATCTTACTGGGGAGTTTTGAATTGCTCAAGGTGACTAGAGGTCACAGAGGATGGAGTGGGAAAGTGAGAGTGGCAGCAGGGGGCAGGTGGGCACCGGGAGGCAGCCACCGATGATGTTGTGCTACAGCGGTCGGGACACAGCCCCTTGGGCAACTGCAGCTGGATGCCAAGGGCTGACACAGGGATGAGAGAAAAACCAAAACAAAACCCCCACATGAGCAAGAAAATGTACACTGCACAACTTGCAGGCTCCCCACTGCTGCCCCT
Task1_train_3988
The gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Trichothiodystrophy 2, photosensitive
CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTC
CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGGTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTC
Task1_train_3989
This sequence variant lies in ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Trichothiodystrophy 2, photosensitive
CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGGAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
Task1_train_3990
Gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Xeroderma pigmentosum group B
CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGGAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
Task1_train_3991
This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAAGGGTTTTGCCCTCACCTCCCTCCCTGCTGGACGGCATCCTTGGTGGGCAGAGGTGGGCTTCGGGCAGAACAAGCCGTGCTGAGCTAGGACCAGGAGTGCTAGTGCCACTGTTTGTCTATGGAGAGGGAGGCCTCAGTGCTGAGGGCCAAGCAAATATTTGTGGTTATGGATTAACTCGAACTCCAGGCTGTCATGGCGGCAGGACGGCGAACTTGCAGTATCTCCACGACCCGCCCCTGTGAGTCCCCCTCCAGGCAGGTCTATGAGGGGTGTGGAGGGAGGGCTGCCCCCGGGAGAAGAGAGCTAGGTGGTGATGAGGGCTGAATCCTCCAGCCAGGGTGCTCAACAAGCCTGAGCTTGGGGTGAAAGGACACAAGGCCCTCCACAGGCCAGGCCTGGCAGCCACAGTCTCAGGTCCCTTTGCCATGCGCCTCCCTCTTTCCAGGCCAAGGGTCCCCAGGGCCCAGGGCCATTCCAACAGACAGTTTGGAGCCCAGGACCCTCCATTCTCCCCACCCCACTTCCACCTTTGGGGGTGTCGGATTTGAACAAATCTCAGAAGTGGCCTCAGAGGGAGTCGGCAAGAATGGAGAGCAGGGTCCGGTAGGGTGTGCAGAGGGCCACGTGGCCTATCCACTGGGGAGGGTTCCTTGATCTCTGGCCACCAGGGCTATCTCTGTGGCCTTTTGGAGCACCTGGTGGTTTGGGGCAGGGGTTGAATTTCCAGGCCTAAAACCACACAGGCCTGGCCTTGAGTCCTGGCTCTGCGAGTAATGCATGGATGTAAACATGGAGACCCAGGACCTTGCCTCAGTCTTCCGAGTCTGGTGCCTGCAGTGTACTGATGGTGTGAGACCCTACTCCTGGAGGATGGGGGACAGAATCTGATCGATCCCCTGGGTTGGTGACTTCCCTGTGCAATCAACGGAGACCAGCAAGGGTTGGATTTTTAATAAACCACTTAACTCCTCCGAGTCTCAGTTTCCCCCTCTATGAAATGGGGTTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAG
GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAAGGGTTTTGCCCTCACCTCCCTCCCTGCTGGACGGCATCCTTGGTGGGCAGAGGTGGGCTTCGGGCAGAACAAGCCGTGCTGAGCTAGGACCAGGAGTGCTAGTGCCACTGTTTGTCTATGGAGAGGGAGGCCTCAGTGCTGAGGGCCAAGCAAATATTTGTGGTTATGGATTAACTCGAACTCCAGGCTGTCATGGCGGCAGGACGGCGAACTTGCAGTATCTCCACGACCCGCCCCTGTGAGTCCCCCTCCAGGCAGGTCTATGAGGGGTGTGGAGGGAGGGCTGCCCCCGGGAGAAGAGAGCTAGGTGGTGATGAGGGCTGAATCCTCCAGCCAGGGTGCTCAACAAGCCTGAGCTTGGGGTGAAAGGACACAAGGCCCTCCACAGGCCAGGCCTGGCAGCCACAGTCTCAGGTCCCTTTGCCATGCGCCTCCCTCTTTCCAGGCCAAGGGTCCCCAGGGCCCAGGGCCATTCCAACAGACAGTTTGGAGCCCAGGACCCTCCATTCTCCCCACCCCACTTCCACCTTTGGGGGTGTCGGATTTGAACAAATCTCAGAAGTGGCCTCAGAGGGAGTCGGCAAGAATGGAGAGCAGGGTCCGGTAGGGTGTGCAGAGGGCCACGTGGCCTATCCACTGGGGAGGGTTCCTTGATCTCTGGCCACCAGGGCTATCTCTGTGGCCTTTTGGAGCACCTGGTGGTTTGGGGCAGGGGTTGAATTTCCAGGCCTAAAACCACACAGGCCTGGCCTTGAGTCCTGGCTCTGCGAGTAATGCATGGATGTAAACATGGAGACCCAGGACCTTGCCTCAGTCTTCCGAGTCTGGTGCCTGCAGTGTACTGATGGTGTGAGACCCTACTCCTGGAGGATGGGGGACAGAATCTGATCGATCCCCTGGGTTGGTGACTTCCCTGTGCAATCAACGGAGACCAGCAAGGGTTGGATTTTTAATAAACCACTTAACTCCTCCGAGTCTCAGTTTCCCCCTCTATGAAATGGGGTTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTAGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAG
Task1_train_3992
Gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGT
TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGTGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGT
Task1_train_3993
Here’s a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGT
ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCTGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGT
Task1_train_3994
This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; PROC-related disorder
GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGC
GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGCGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGC
Task1_train_3995
Consider a variant on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa). Determine its clinical classification and disease relevance.
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAA
CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACTGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAA
Task1_train_3996
The following genetic variant occurs in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCAC
CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCTGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCAC
Task1_train_3997
A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACG
CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGATGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACG
Task1_train_3998
A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGG
CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGCGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGG
Task1_train_3999
With a mutation on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGGGCTGAGATTTTTGCTTTCCAGTCTGCCAAGTCAGTTACTGTGTCCATCCATCTGCTGTCAGCTTCTGGAATTGTTGCTGTTGTGCCCTTTCCATTCTTTTGTTATGATGCAGCTCCCCTGCTGACGACGTCCCATTGCTCTTTTAA
CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCCTTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGGGCTGAGATTTTTGCTTTCCAGTCTGCCAAGTCAGTTACTGTGTCCATCCATCTGCTGTCAGCTTCTGGAATTGTTGCTGTTGTGCCCTTTCCATTCTTTTGTTATGATGCAGCTCCCCTGCTGACGACGTCCCATTGCTCTTTTAA