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_23700
|
A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
|
TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
|
Task1_train_23701
|
Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
Task1_train_23702
|
The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; ALOX12B-related disorder
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
Task1_train_23703
|
Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Lamellar ichthyosis
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG
|
Task1_train_23704
|
Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTT
|
TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCACAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTT
|
Task1_train_23705
|
Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTG
|
TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGTCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTG
|
Task1_train_23706
|
This variant affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; not specified
|
TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGG
|
TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGGCATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGG
|
Task1_train_23707
|
Assess the clinical impact of this variant on gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not specified
|
AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGA
|
AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCTCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGA
|
Task1_train_23708
|
A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCAT
|
GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGAACTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCAT
|
Task1_train_23709
|
This mutation occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGG
|
ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGGGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGG
|
Task1_train_23710
|
A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG
|
TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGAGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG
|
Task1_train_23711
|
Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Lamellar ichthyosis
|
GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC
|
GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTAGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC
|
Task1_train_23712
|
The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; not specified
|
TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTT
|
TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTTAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTT
|
Task1_train_23713
|
Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG
|
CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGCGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG
|
Task1_train_23714
|
With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG
|
AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTATGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG
|
Task1_train_23715
|
A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Lamellar ichthyosis
|
CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA
|
CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTAGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA
|
Task1_train_23716
|
A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; See cases
|
CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA
|
CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTAGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA
|
Task1_train_23717
|
With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
|
TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTTGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
|
Task1_train_23718
|
A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC
|
GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGTGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC
|
Task1_train_23719
|
A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT
|
ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACATCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT
|
Task1_train_23720
|
A variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGC
|
ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTCGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGC
|
Task1_train_23721
|
Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTT
|
GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGTCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTT
|
Task1_train_23722
|
Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAA
|
CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCGGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAA
|
Task1_train_23723
|
The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCA
|
TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAGTGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCA
|
Task1_train_23724
|
A variant was discovered on Chromosome 17, affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTC
|
TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCGGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTC
|
Task1_train_23725
|
This genomic variant is located on Chromosome 17, within the ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCC
|
GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGAAGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCC
|
Task1_train_23726
|
This gene mutation involves ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTA
|
ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCTAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTA
|
Task1_train_23727
|
This sequence variant lies in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTACACATTTTTTAACACCCATTTATGGGTGAGAACATTCGGTATTTGACTTTCTGGTCTGGCTTGTTTCACTTAAGATAATGACTTCTAGTTCCATCCATGTTGCTGCAAATGACATGATTTCATTTTTTTCATGACTGAATAGTATTCCACTGTGTATATATACCACATTTTCTTTATCCAGTCATCCATTAGGGCACTTAGGGTGATTCCATATCTTTGCTAGTGTGAATAGCGCCACAATAAATAAGGCATCTTTTTGATATGTTGATTTCTTTTCCTTTGGGTATATACCACTGAAATATTAATAACTGACAGTTGTTTAGCACTTACTAGGTCCCAGGTATTGGGAAAAGGGCTTGTGGGGTGCCTGTATAAACTGGCCATAAAAATATGTGACAGTAAGCTGTGGAAAGTCACAAAAGGCCTCTGAGGAGGAAAGCGTTCTTATCGCCATTATGTTCCCATGCTCTGAGCGTTAACCTGCTGTCTTATCTATAAACACTGTGTTCAAGGAGAAAGACACTCCTTTGAAACCTGGAAGGTGGACAGACGCGCAGGCTCCTAGTTAAGCCTGTTCCCACTAGCTGCTCTCCGATAAGTTAAAGATGTGCTGTTTGAGCACAAAGGAGATTCGTTTAAACCGCTATTGCTATAGATTACGCCTGTGACGCACTGCCTCCCTTTCAGTGTTTCACCCTGAACATCTGCTTCTTAGATCTAAGTGACTGTACTCAATAAATAGTGTGGAGACCAGAACTCTGGGCCTTTTGCAGCCTCCATTTTGCAACTGCCTCCCTGGCCCCCACTCTTTTTGCACTCTTAACCTGTCTCTTCTCATTCCTTCGTCACCACCGGACTTTGGGTACCCTACAGGTGGTGTTGAGGCTGGTCCCCAACACCAGGCACTTTGTAGACACTTTACTTTTATTAATCTAAGCCTAAGAAGCACCCTATGAGGCAGGTGACTATTACTATAGGCTGGTGACCCCTTCGTCACAACTGCAAAGTACAGAAAGCTGTGGAAATCAAGTTTGTCTGTTTGTTCCACAACAAATTCATTGGTTGACAAAGCCTGCTGTGAATCTCCCTGAGGCTATATACAATCTTTATTTAACTCACTGGGTCTAACTATTCATAGTTTTTACTGGGAAGTGTTAGTATATTTGATTGGGGTGCCCTGTGGTAGATATAGCACATAATATATGGGGTATGTGTGTGATATAGATTTATAGATGAAGATATATATGTATACATATACATATTTTA
|
TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGACATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTACACATTTTTTAACACCCATTTATGGGTGAGAACATTCGGTATTTGACTTTCTGGTCTGGCTTGTTTCACTTAAGATAATGACTTCTAGTTCCATCCATGTTGCTGCAAATGACATGATTTCATTTTTTTCATGACTGAATAGTATTCCACTGTGTATATATACCACATTTTCTTTATCCAGTCATCCATTAGGGCACTTAGGGTGATTCCATATCTTTGCTAGTGTGAATAGCGCCACAATAAATAAGGCATCTTTTTGATATGTTGATTTCTTTTCCTTTGGGTATATACCACTGAAATATTAATAACTGACAGTTGTTTAGCACTTACTAGGTCCCAGGTATTGGGAAAAGGGCTTGTGGGGTGCCTGTATAAACTGGCCATAAAAATATGTGACAGTAAGCTGTGGAAAGTCACAAAAGGCCTCTGAGGAGGAAAGCGTTCTTATCGCCATTATGTTCCCATGCTCTGAGCGTTAACCTGCTGTCTTATCTATAAACACTGTGTTCAAGGAGAAAGACACTCCTTTGAAACCTGGAAGGTGGACAGACGCGCAGGCTCCTAGTTAAGCCTGTTCCCACTAGCTGCTCTCCGATAAGTTAAAGATGTGCTGTTTGAGCACAAAGGAGATTCGTTTAAACCGCTATTGCTATAGATTACGCCTGTGACGCACTGCCTCCCTTTCAGTGTTTCACCCTGAACATCTGCTTCTTAGATCTAAGTGACTGTACTCAATAAATAGTGTGGAGACCAGAACTCTGGGCCTTTTGCAGCCTCCATTTTGCAACTGCCTCCCTGGCCCCCACTCTTTTTGCACTCTTAACCTGTCTCTTCTCATTCCTTCGTCACCACCGGACTTTGGGTACCCTACAGGTGGTGTTGAGGCTGGTCCCCAACACCAGGCACTTTGTAGACACTTTACTTTTATTAATCTAAGCCTAAGAAGCACCCTATGAGGCAGGTGACTATTACTATAGGCTGGTGACCCCTTCGTCACAACTGCAAAGTACAGAAAGCTGTGGAAATCAAGTTTGTCTGTTTGTTCCACAACAAATTCATTGGTTGACAAAGCCTGCTGTGAATCTCCCTGAGGCTATATACAATCTTTATTTAACTCACTGGGTCTAACTATTCATAGTTTTTACTGGGAAGTGTTAGTATATTTGATTGGGGTGCCCTGTGGTAGATATAGCACATAATATATGGGGTATGTGTGTGATATAGATTTATAGATGAAGATATATATGTATACATATACATATTTTA
|
Task1_train_23728
|
Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAA
|
AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCTGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAA
|
Task1_train_23729
|
This alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCT
|
GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGAGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCT
|
Task1_train_23730
|
An alteration has been detected in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTC
|
TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGTAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTC
|
Task1_train_23731
|
Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAG
|
TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGGGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAG
|
Task1_train_23732
|
Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGG
|
GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGAAGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGG
|
Task1_train_23733
|
The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAG
|
AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGGGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAG
|
Task1_train_23734
|
The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTT
|
ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTACCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTT
|
Task1_train_23735
|
This variant impacts the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG
|
GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCAACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG
|
Task1_train_23736
|
A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG
|
GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCCACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG
|
Task1_train_23737
|
Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal recessive congenital ichthyosis
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
Task1_train_23738
|
This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
Task1_train_23739
|
Here is a variant affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Lamellar ichthyosis
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC
|
Task1_train_23740
|
This variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCCTGATGCTGTTTCAGTTTTCCTCTTAGCATTCATAACCACCTGACATGTGTTTGTTGATTCTCTCTTTCTCTCTCCAA
|
CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCTTTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCCTGATGCTGTTTCAGTTTTCCTCTTAGCATTCATAACCACCTGACATGTGTTTGTTGATTCTCTCTTTCTCTCTCCAA
|
Task1_train_23741
|
This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACTCTGTCTCGCACCAGGCGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCCGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAAACAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCAC
|
CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACTCTGTCTCGCACCAGGCGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCCGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAAACAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGAAGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCAC
|
Task1_train_23742
|
A genetic alteration is present in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGAT
|
AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCGGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGAT
|
Task1_train_23743
|
This variant impacts the gene ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCT
|
GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCGCAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCT
|
Task1_train_23744
|
The variant affects gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; not specified
|
AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTC
|
AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCTGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTC
|
Task1_train_23745
|
This alteration occurs within gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAA
|
TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAAAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAA
|
Task1_train_23746
|
Consider a variant on Chromosome 17 in gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151). Determine its clinical classification and disease relevance.
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGT
|
CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCTCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGT
|
Task1_train_23747
|
Here is a variant affecting ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAAC
|
ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGACAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAAC
|
Task1_train_23748
|
This mutation occurs in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not specified
|
TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGG
|
TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCGGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGG
|
Task1_train_23749
|
Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGT
|
GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACAACATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGT
|
Task1_train_23750
|
A mutation on Chromosome 17 affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGTGCATCTCTG
|
GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGCACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGTGCATCTCTG
|
Task1_train_23751
|
A change on Chromosome 17 affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; not specified
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
Task1_train_23752
|
The variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
Task1_train_23753
|
This alteration in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT
|
Task1_train_23754
|
Mutation context: Chromosome 17, Gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Autosomal recessive congenital ichthyosis 3
|
TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCTCCAGGAAAGACAGGGACCTCAATAGGGAAGGTGAGGAGGTCAGGGCCGGTATCCTGAGTTCAGCAGGATCTCAAGAGTCCAGGAGGAATACTCCTCCCGCCTGCGGCCCCTGCCCCTCTGAGGTCGCGCTTCCCTGTCTCCTTTGTACTCACCGATCCAGGGGCGAAGTCCCTGCCCATTCGATCTAGCCGCTGCTTGGGGCTTTCACCACACGTGCCCACCAGTGTGACAGAGATGTTGTCCAGTGTGCCGGCCCTCAGGTAGGGACCAGTGGTCACACACAGGCGGTACACTGCCATGATGGGAAGGAGGAAGGGATGCCCCGGCAACGCTGGCCGCAGCAGCAGCCGGCCTGGAGGAGAAGAGCGGCACGCCGGACAGGGCTGGGTTTCTGGGCGGAGGGCTAGGGGCTGCGGGGCTGGGTAGGGCTGAGGATGGGCCCAGCTCTCTCTGGGATGTTCCTGGGCTTTCTCTCTCCGAAGCTCCCTGCTGGCGGCTCGGGCTTCCTCTCTCCGCCCACAGTCTTGCACTCTAATACTTGTTTGCTTGCCTCTGACACAGCCGGTCCCTCTGGCTGGCTCACCCAGATGGATATCAGGAGCCTGGGTTCCACTGCGGAGGGAGGGATCAGATGCTGAGATGGAGAAAAGGAGGTAACGCCTGTATAATTGGGACACTGCCCTCCGCCTGGTCAGCGGCCCGGACTGATGCCCTGGAGTGCTTGTCCGCCCACTCCCCAATGTCCCCCAAGATCTGTTCCTCCCCATTCCCAGGCAGAGATGAGCACAGGGCACCTGCATTCCTACGTGTGAATCATCCGTGTGAATCACTAAACAGTGGAGAGTTGCACTTGGTCATAAATCACACGTGACTGCAGCCACACGCAGGTGAGTCGCACACGCATTCCAGCACATGTCAAATGGTCAGGAACAGCTCCCTGTCACCCCATACACCGATCCCCCCACGCATGGCCCTCTTTGTCCCCAGCCTTTGGCACGCCCGACCTCATTCTCTGCTCTGGAGTAGGGCAGGTCAGGAAAGCGAAATACAGCGCCGGCAAACAGGGTCTGAATGCCCCGCGTGGCATTCTTTCCGCTCCAGGACCGCCCTGGGCCTGCAGGATCCTGGGCGGGAGCCCAGGTGTCCGGGATCTGGGCCACTAGGGACTGGGGAGGA
|
TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACGGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCTCCAGGAAAGACAGGGACCTCAATAGGGAAGGTGAGGAGGTCAGGGCCGGTATCCTGAGTTCAGCAGGATCTCAAGAGTCCAGGAGGAATACTCCTCCCGCCTGCGGCCCCTGCCCCTCTGAGGTCGCGCTTCCCTGTCTCCTTTGTACTCACCGATCCAGGGGCGAAGTCCCTGCCCATTCGATCTAGCCGCTGCTTGGGGCTTTCACCACACGTGCCCACCAGTGTGACAGAGATGTTGTCCAGTGTGCCGGCCCTCAGGTAGGGACCAGTGGTCACACACAGGCGGTACACTGCCATGATGGGAAGGAGGAAGGGATGCCCCGGCAACGCTGGCCGCAGCAGCAGCCGGCCTGGAGGAGAAGAGCGGCACGCCGGACAGGGCTGGGTTTCTGGGCGGAGGGCTAGGGGCTGCGGGGCTGGGTAGGGCTGAGGATGGGCCCAGCTCTCTCTGGGATGTTCCTGGGCTTTCTCTCTCCGAAGCTCCCTGCTGGCGGCTCGGGCTTCCTCTCTCCGCCCACAGTCTTGCACTCTAATACTTGTTTGCTTGCCTCTGACACAGCCGGTCCCTCTGGCTGGCTCACCCAGATGGATATCAGGAGCCTGGGTTCCACTGCGGAGGGAGGGATCAGATGCTGAGATGGAGAAAAGGAGGTAACGCCTGTATAATTGGGACACTGCCCTCCGCCTGGTCAGCGGCCCGGACTGATGCCCTGGAGTGCTTGTCCGCCCACTCCCCAATGTCCCCCAAGATCTGTTCCTCCCCATTCCCAGGCAGAGATGAGCACAGGGCACCTGCATTCCTACGTGTGAATCATCCGTGTGAATCACTAAACAGTGGAGAGTTGCACTTGGTCATAAATCACACGTGACTGCAGCCACACGCAGGTGAGTCGCACACGCATTCCAGCACATGTCAAATGGTCAGGAACAGCTCCCTGTCACCCCATACACCGATCCCCCCACGCATGGCCCTCTTTGTCCCCAGCCTTTGGCACGCCCGACCTCATTCTCTGCTCTGGAGTAGGGCAGGTCAGGAAAGCGAAATACAGCGCCGGCAAACAGGGTCTGAATGCCCCGCGTGGCATTCTTTCCGCTCCAGGACCGCCCTGGGCCTGCAGGATCCTGGGCGGGAGCCCAGGTGTCCGGGATCTGGGCCACTAGGGACTGGGGAGGA
|
Task1_train_23755
|
A variant on Chromosome 17 in gene HES7, LOC130060203 (hes family bHLH transcription factor 7| ATAC-STARR-seq lymphoblastoid silent region 8155) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Spondylocostal dysostosis 4, autosomal recessive
|
ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGATAATTGAGTCCTATAACACAGTGTTAAGAGAACGTACAATAAATTATTTAAATATGTTGGAAGTTGAGCTAACATTTGAAAACATGTTAAAATAGAGATGTTATGAAGAAACGAAATAATAGAGATGTTATGAAGAAACGAAATATTGCTTCAGCAGTTACCATCAGGTCTTAGCTTCTGGGATGGATGCAGGCCTATGATCTCTCTGGAAGACCAAACACGGAAGATGATGGTGAAACCATTACCAGGGGAATTCGTAAAATTACTTTCTGCATGTAAATAGGTGTAACCTCACAGAACTGTTAACAGAACTGTAGCAGGTGCGTAATCCACCAGAAAAACTCCAGCCTGGCAGCGGTGGGATTCGAACCCACGCCTCCGAAGAGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTT
|
ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGATAATTGAGTCCTATAACACAGTGTTAAGAGAACGTACAATAAATTATTTAAATATGTTGGAAGTTGAGCTAACATTTGAAAACATGTTAAAATAGAGATGTTATGAAGAAACGAAATAATAGAGATGTTATGAAGAAACGAAATATTGCTTCAGCAGTTACCATCAGGTCTTAGCTTCTGGGATGGATGCAGGCCTATGATCTCTCTGGAAGACCAAACACGGAAGATGATGGTGAAACCATTACCAGGGGAATTCGTAAAATTACTTTCTGCATGTAAATAGGTGTAACCTCACAGAACTGTTAACAGAACTGTAGCAGGTGCGTAATCCACCAGAAAAACTCCAGCCTGGCAGCGGTGGGATTCGAACCCACGCCTCCGAAGAGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATACCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTT
|
Task1_train_23756
|
A change on Chromosome 17 affects gene HES7 (hes family bHLH transcription factor 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Spondylocostal dysostosis 4, autosomal recessive
|
AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTA
|
AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATACCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTA
|
Task1_train_23757
|
The following genetic variant occurs in HES7 (hes family bHLH transcription factor 7) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Spondylocostal dysostosis 4, autosomal recessive
|
TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTACCCTCACTAACCCTGAAATAGAAGTTAGCACCTCTCAGCCCCCAGGCTGAATTTTATACATCATCTCCGAAGTTCGCTTCCTAGTCGAGACAGGGAGCAACCCGAGTGCGCTGGGTGAATCTGTCCGACTCAACCGAAGCTCTGCCGGGAGGTTGGAGAGGCGCTCTCTTCTATCTAAGCCAGTTACATTCAAGTCCGCGAACATCTGCGCGCCCACTCTGCGGACAGGGCACTTGTCTAGGCTCGGGCGAGTCATAGTGAGATACGCAGGAGAGACCCAGCTTATCCCTGCAGGATCTAATGGAAAAGACCATGTGACACCAAGTAGCTATTACAGAAGCCCAGTGAAGTAGGTGCTCCGGGAAAAGGTCTCCTTAAGGATGGCTGGACTGAGGAGGATCTTCAAGGCAGAGGGAGCAAGTCTTTGAAACATAGGTATGAGTGGAGAGGTCTTTCCACTTACAGTACAAGTATTTGATTCAAAACTAGTCATAGGAGATTCAGGAGTGTGGCTGATAGGACACCTCACGCAAGTGTGCCCGCATTGCTTGCTTCTGGAGGCCCCTGGTGACTGTAGGGTAGCAGGGAGCAGGCAGTTTACTAAGGGGAAAGCAAGGGGTACAAAAAAGGGATCAACACCCACCTCAAACCAAGAGCATGACCCTCCGCAGAACGATGCCTGACCACTCGAGGGCTTCA
|
TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCAGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTACCCTCACTAACCCTGAAATAGAAGTTAGCACCTCTCAGCCCCCAGGCTGAATTTTATACATCATCTCCGAAGTTCGCTTCCTAGTCGAGACAGGGAGCAACCCGAGTGCGCTGGGTGAATCTGTCCGACTCAACCGAAGCTCTGCCGGGAGGTTGGAGAGGCGCTCTCTTCTATCTAAGCCAGTTACATTCAAGTCCGCGAACATCTGCGCGCCCACTCTGCGGACAGGGCACTTGTCTAGGCTCGGGCGAGTCATAGTGAGATACGCAGGAGAGACCCAGCTTATCCCTGCAGGATCTAATGGAAAAGACCATGTGACACCAAGTAGCTATTACAGAAGCCCAGTGAAGTAGGTGCTCCGGGAAAAGGTCTCCTTAAGGATGGCTGGACTGAGGAGGATCTTCAAGGCAGAGGGAGCAAGTCTTTGAAACATAGGTATGAGTGGAGAGGTCTTTCCACTTACAGTACAAGTATTTGATTCAAAACTAGTCATAGGAGATTCAGGAGTGTGGCTGATAGGACACCTCACGCAAGTGTGCCCGCATTGCTTGCTTCTGGAGGCCCCTGGTGACTGTAGGGTAGCAGGGAGCAGGCAGTTTACTAAGGGGAAAGCAAGGGGTACAAAAAAGGGATCAACACCCACCTCAAACCAAGAGCATGACCCTCCGCAGAACGATGCCTGACCACTCGAGGGCTTCA
|
Task1_train_23758
|
Gene VAMP2 (vesicle associated membrane protein 2) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
|
TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGA
|
TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTGCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGA
|
Task1_train_23759
|
The gene VAMP2 (vesicle associated membrane protein 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
|
GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCA
|
GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAGACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCA
|
Task1_train_23760
|
Here is a mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
|
TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGA
|
TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGGGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGA
|
Task1_train_23761
|
Consider this mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGACTGAGGTGGGGTGAGCTGAGGACCCCGAGGAGGAGGGCACAAGGCTGCCGGGGGTGATGGGGGCAGGGGCTGCTTCACGTGGTGGCTGCTGACTGGCCAAGACCTAGCTTTGCCCCAGGCTTAGGTCAGCGACCCGACTGCAGGAAAGGGCTCAGGCTTTGGTCCCAGGCACAGGGCCTGGGCCAAAAAAAAAAAAAAAGCCTTTTTTCTTTTTCTCTCATTTTTTTTTCTTTAGTAGTAGGCACAGTGGGCACAGGTTACAAGGTGCTGCTTTACATGCGTATTCGCCTCGCAGGTGTGACCTTGGACCGTTGCCCTCCTCTCTCTGGACCCCAAATACATTGCATATGTAGGTACTAAATCCATATTTGTTAAATGGCTTGATGTGGATAACATAGGAGATTATCCCTGGCTGGTCTCCATTAGGCCCTCTAAGCACACCCAGCAGCTGTATACACTCCCACCCAGCTTGTCAGAGAAGATGGGACCAGGGGAGCTGTCGCTCTGGTGGAGTGCAGGGGGTCAAAGCAAGCCTCAAGGGTGCAGGAGGCATTTTAGGCGAGGCCCTTTGGCCCTGGGGTGGGGGTGCTTACTACATCCCTGGAAGGTGCAGGGAGGCTGATGGCCTTGATCTCTAAGACAAACAGGAACCAGCTTCCTCCCTCCCCCACCCTGGCTTCCCAGGGCCTCCGGGTGTGAGATCCTCCCCCACTGCAGTGCCCCACCCGCTCCCCACAGAAGCCCGGAGAGTGGCTCTGTCACCAGAGGTGTCATTTCCCAGCTGTCTGTGGGAGGTGAGTGAGCAGGGAATGTGTGTGCTGGGTGTGGGAACTCAGCCCAATCTAAGAGAAGATACTCTTGGCTTCCTCCCCCTCAGAGGAGCAGCCGCGTCCCTGGTCCTTGTGCACTGACAGTCCCGGGTGGCTCAGCCTATGTGATGAGAAAGAAAAGAGCAGCTTCCACGGGGGTCTCAGATCATGCTGTGAGATGCTGGCTCCTGCTTTTTGGTCTTCAAATGATTCCTCTTTCTAGTCAGAGAACAAAGATGCCAAATTCCAGCCTTTTAAGTTCAAAACCCTCAGTGTCTGTCAGGGTATAAATAAGACATGGAGGATTGGAAGAGGCAGGCACAGGAAGCCCTTCCGCCCCCAGTTGGACACCCTGCACTAACTGAGGGGAGCCTAGTGCAGAGCCAGACAAGACATTTGATGC
|
AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACACGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGACTGAGGTGGGGTGAGCTGAGGACCCCGAGGAGGAGGGCACAAGGCTGCCGGGGGTGATGGGGGCAGGGGCTGCTTCACGTGGTGGCTGCTGACTGGCCAAGACCTAGCTTTGCCCCAGGCTTAGGTCAGCGACCCGACTGCAGGAAAGGGCTCAGGCTTTGGTCCCAGGCACAGGGCCTGGGCCAAAAAAAAAAAAAAAGCCTTTTTTCTTTTTCTCTCATTTTTTTTTCTTTAGTAGTAGGCACAGTGGGCACAGGTTACAAGGTGCTGCTTTACATGCGTATTCGCCTCGCAGGTGTGACCTTGGACCGTTGCCCTCCTCTCTCTGGACCCCAAATACATTGCATATGTAGGTACTAAATCCATATTTGTTAAATGGCTTGATGTGGATAACATAGGAGATTATCCCTGGCTGGTCTCCATTAGGCCCTCTAAGCACACCCAGCAGCTGTATACACTCCCACCCAGCTTGTCAGAGAAGATGGGACCAGGGGAGCTGTCGCTCTGGTGGAGTGCAGGGGGTCAAAGCAAGCCTCAAGGGTGCAGGAGGCATTTTAGGCGAGGCCCTTTGGCCCTGGGGTGGGGGTGCTTACTACATCCCTGGAAGGTGCAGGGAGGCTGATGGCCTTGATCTCTAAGACAAACAGGAACCAGCTTCCTCCCTCCCCCACCCTGGCTTCCCAGGGCCTCCGGGTGTGAGATCCTCCCCCACTGCAGTGCCCCACCCGCTCCCCACAGAAGCCCGGAGAGTGGCTCTGTCACCAGAGGTGTCATTTCCCAGCTGTCTGTGGGAGGTGAGTGAGCAGGGAATGTGTGTGCTGGGTGTGGGAACTCAGCCCAATCTAAGAGAAGATACTCTTGGCTTCCTCCCCCTCAGAGGAGCAGCCGCGTCCCTGGTCCTTGTGCACTGACAGTCCCGGGTGGCTCAGCCTATGTGATGAGAAAGAAAAGAGCAGCTTCCACGGGGGTCTCAGATCATGCTGTGAGATGCTGGCTCCTGCTTTTTGGTCTTCAAATGATTCCTCTTTCTAGTCAGAGAACAAAGATGCCAAATTCCAGCCTTTTAAGTTCAAAACCCTCAGTGTCTGTCAGGGTATAAATAAGACATGGAGGATTGGAAGAGGCAGGCACAGGAAGCCCTTCCGCCCCCAGTTGGACACCCTGCACTAACTGAGGGGAGCCTAGTGCAGAGCCAGACAAGACATTTGATGC
|
Task1_train_23762
|
A genetic alteration is present in LOC105371520, TMEM107 (uncharacterized LOC105371520| transmembrane protein 107) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATTTCAGTGACAGCTGGAAGGGCACTACCAAGGCAAGTGGTAGATTCAGAAACCCTTTCAGTATAAATACCCAAATCTCCAAACCAGAGACCCCACCTCTGAAAGTGTAGGGCAGGTGGCATGGGGGGTAGGGGATGAAACTTTAAAAGCCTACAGGATGTTGAGTGGATCTGGTATCTCACACATGGAGGAAAGGGCTGGGTAGGGGAAAAACCTTCAGGTTTAGGGCCAACCTTCCTCCCTCATCCCCAAATATTGGATGCTACCACACCTGCAGAAGACAAAAATGTACCAATACGTAGTGCACTCCCAACGCTCGAATATGAAGAAGGACAGGGCCACGGATGCACTACAGTGAGCCCCAATGGCTTGGGAAGGCACGAGATTAAGGAAAGTCTTTGGATCGACAGACAGTGATGGGTCAGAAAAGGCCAGTGGTGGGGCTGGCATCTGCATTCAGGTTCATCCCTTGCTCCCTCACCATGTTTCAAGGGCTAGAGTCAGCAGCTCTGACTTCTGAATTTTAGGACAGTCATGTGAGGAGAGACCAGAAGTGACTGCACAGATCGGACCTCAGGCTACCCTACCCCTTATCTGTGGGCCAGCCTGGATCCTTCAGATGAGAGGTAAGAGTAGGCTCTCCTTCTGCTATGCCACAAAGGAGTGCTGACAGCGACTTAATATGCGCTGGAATCAGCCTCCAGTGTCCTGGTCCTCCTGGTCCACAATTCTCTGACCCATGTGCCTCATCTCCTTTGCCTCTTCTGAGTTCCCAGTGCTCGCTTCCGTTGCCTCTTCTGAGTTCCCATTGTGCTTTATATCTTTTGTTTGTTTTTTGACAGAGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTTCCTCAGTCTCCTGAGTAGCTGGGATTACAGGAGTGCGCCGCCACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCATCGCGCCCTGCCTGTGCTTTCTATCTTCACACACTTCTATAGCACAGTGCTTATCACACTGAATTACAGATTTGTATCTACCTCCTCCTCATTGTAAAAAGAAACGGTGGGGTTTTTATTATTCCTATTATTTTTGTAGACTTGGGTTCTCACTATGTTGCCTCCTGCCTGCGCCTCCCACAGTGCTGGGATTACAGACGTGAGCCAACATGCCTGGCCAAAAACTGTATTTTACTCTCATTTTGGGATTTTAAGTGCCTAGTAAACAGCAGGATTTAGCACATCGTTGAAGATCTTTGAACTGGAAGGATTGGCTACAGCAGACACTATTGTGTCAGGTGGCTGAAGGGAGTCCTGATAGAAGTGGGTCGTGTGGGAAAGGTGGGCAGGCAGAAAGGATACAGATGAGGCTCTGGGTGCTGTTGAACATGGAGACTCCTGAGAGGAAACCGGCCAGCTCCACTGCAAAGAGGCCCAGGGTGACAGAGAGCGCGGCCACCAGCCTGCAGAGAGGAAGTGGACTGGCCCAGGCCTTTGGACTTATTCTAAGACCCCTCCACTCCCACCACCTCTTCGTTCTGGCCACCCCGTCCCAAGAGCTCACTGAATGTCCTGCTTGTCATACTCCTCGGGGGTGAACGTGAGAGGCAGGCAGGCCTGTATGTTGCTGTCCTGGGAGCAGGGCACAGGAAGAGAAGTGAAAAAGGGGCAGGCTGCAGGGCAGGCCTGGGGGCGGCGGGAAACAAGAAAACCCAAGAGGGTAAGACACTGGGAGGGGGCAGGGTAGGACTAGGACCACTCAGAGATGGGAATGGGGACGGATTGAGTGCAGCCGTGGGTCTTACCCGGGACCAGAATAAGGTGATGACGACCACCAGATGCGCCAGGAGCGTCAGGAAGCGAGAGGGCACAAGCCCTGAGACCCGGCCCATGGCCCTCGGGGACAAGGGCGGCGGTCTCTGAGGCTGGAAGTTCAGAGACAGCGACTCCTGAAGTCTCCCCGCAAGCCGACAAATCTAGACGAACGCCTCCTTCCCGCCCGCTCAGGCACCGCCCAGTTGCCTTGGTAACCGTGTACGCGGGCTCGGCGCCGCGTTCTCGGAAATCCTCGCGAGCAGTACATTCTCCGGCTGCTGCGGGTCTCTCAGGGCCAGCGAAGGTCAGGGGTACCCGAAGGCGCTTCTAACCTAACGGCTGGGTACCCGCGCGCAGCCAGGCCCTTTGTTCCTCAGAGGGTGCGAGGTGGCACAGCCCCGCAGCGCCCGATCTGCCCACGCAGGGCGGATGAACGGAAACCCACCCTGGCCTAGCTTGGGGACACCAATGCTTCTGCTGTTGCCCACGCCGGGAGCGGCCCCCAGCCCCAGCTACGCTGCCCAGTTGTGGATCACTTGAGACCGCTGCCACCACCACGCCGGGCTGAGTTCCCCGCCATGCCGAAGACTCAGACCCGCTCCCCTTCCCCTCCTCTGCATGCCTTTAGCTTCCCACCAAGCTGGGCCTGAGAAACAAGGGACCCGAACCTGGAGAGGCCGGTGTTCCTGGACTGCTCTGCAGTCACAGATTGTCACGGAGCCCCTGGTTGTCTGAGGACCCCAGGCCTGAACCTTCCTTGAGGAAGACTGATTTCTTTCAGACTACTTTGCTCAGTTTGGTGAGGGATTTGCAGAGTGCAAAAAATGGCCAGCGTCCTTAAACTAGCATGGGGATAAGAGCAGAGCAAGGTGGCTGGAAAGAGTGGGAGTGGACGAAGGGAATGGGACAGTCCCTGCGTCTCTGGGAGGCTTGGAGCCGGCTGGAAGGGAAACTCAACTCAGATTTCTTTGTCCCTTGGAGGTGCTGGGCCTCCGACATTGCCCAGCTACAGTCCAAGAAGCTCTTATCATCGGCGACCTCATGACCTTTGGGCCTCAGCGCAGGTCCCTGCAGATCTGAAAGTTCTTTAATTGCTGAGTCAAGTCCCATCCTCAAGGAACCTCCCGGCCCATCTCCCAGGAGAACAATCTCTTCCTACTCCCCACTCCCCATCTCAGTGCTTTTAGCCAGCCTAAACTACAAGCCCAAGAGGCATTTCTCATTCCTTCAACAAATATTTGTATATGTTTATTGATTACCTAGTAAGGGTATTCTAGTCAGGGAGATCAACAACAGACATGCAAACAAATAAATCCGTAAGATAATAGGCGCTACAAACAGGGAAAAGCGGGCTGTGCACTGTGGCTCACACCTGTAATCCCAGCGCTTTAGGAGGCCTAGGAGGGCGGATCACCTGAGGTCAGGAGCTCGAGACCAGACTGACCAACATGCTGAAACCCTGTCTCCACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCATGGGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTCTGCAACAAGAGCGCAACTCCGTCTCCAAAAAAAAAAGAAACGCTAGAATTATAATTCTATAAAAATAGGGCATTTATAATTCTATTAAAATAGAGCATTTATTTTGTTTTATTTTATTTATTTACTTTTTCTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATTTCGGCTCACTGCAAGCTCGGCCTCCCGGGT
|
GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATTTCAGTGACAGCTGGAAGGGCACTACCAAGGCAAGTGGTAGATTCAGAAACCCTTTCAGTATAAATACCCAAATCTCCAAACCAGAGACCCCACCTCTGAAAGTGTAGGGCAGGTGGCATGGGGGGTAGGGGATGAAACTTTAAAAGCCTACAGGATGTTGAGTGGATCTGGTATCTCACACATGGAGGAAAGGGCTGGGTAGGGGAAAAACCTTCAGGTTTAGGGCCAACCTTCCTCCCTCATCCCCAAATATTGGATGCTACCACACCTGCAGAAGACAAAAATGTACCAATACGTAGTGCACTCCCAACGCTCGAATATGAAGAAGGACAGGGCCACGGATGCACTACAGTGAGCCCCAATGGCTTGGGAAGGCACGAGATTAAGGAAAGTCTTTGGATCGACAGACAGTGATGGGTCAGAAAAGGCCAGTGGTGGGGCTGGCATCTGCATTCAGGTTCATCCCTTGCTCCCTCACCATGTTTCAAGGGCTAGAGTCAGCAGCTCTGACTTCTGAATTTTAGGACAGTCATGTGAGGAGAGACCAGAAGTGACTGCACAGATCGGACCTCAGGCTACCCTACCCCTTATCTGTGGGCCAGCCTGGATCCTTCAGATGAGAGGTAAGAGTAGGCTCTCCTTCTGCTATGCCACAAAGGAGTGCTGACAGCGACTTAATATGCGCTGGAATCAGCCTCCAGTGTCCTGGTCCTCCTGGTCCACAATTCTCTGACCCATGTGCCTCATCTCCTTTGCCTCTTCTGAGTTCCCAGTGCTCGCTTCCGTTGCCTCTTCTGAGTTCCCATTGTGCTTTATATCTTTTGTTTGTTTTTTGACAGAGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTTCCTCAGTCTCCTGAGTAGCTGGGATTACAGGAGTGCGCCGCCACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCATCGCGCCCTGCCTGTGCTTTCTATCTTCACACACTTCTATAGCACAGTGCTTATCACACTGAATTACAGATTTGTATCTACCTCCTCCTCATTGTAAAAAGAAACGGTGGGGTTTTTATTATTCCTATTATTTTTGTAGACTTGGGTTCTCACTATGTTGCCTCCTGCCTGCGCCTCCCACAGTGCTGGGATTACAGACGTGAGCCAACATGCCTGGCCAAAAACTGTATTTTACTCTCATTTTGGGATTTTAAGTGCCTAGTAAACAGCAGGATTTAGCACATCGTTGAAGATCTTTGAACTGGAAGGATTGGCTACAGCAGACACTATTGTGTCAGGTGGCTGAAGGGAGTCCTGATAGAAGTGGGTCGTGTGGGAAAGGTGGGCAGGCAGAAAGGATACAGATGAGGCTCTGGGTGCTGTTGAACATGGAGACTCCTGAGAGGAAACCGGCCAGCTCCACTGCAAAGAGGCCCAGGGTGACAGAGAGCGCGGCCACCAGCCTGCAGAGAGGAAGTGGACTGGCCCAGGCCTTTGGACTTATTCTAAGACCCCTCCACTCCCACCACCTCTTCGTTCTGGCCACCCCGTCCCAAGAGCTCACTGAATGTCCTGCTTGTCATACCCCTCGGGGGTGAACGTGAGAGGCAGGCAGGCCTGTATGTTGCTGTCCTGGGAGCAGGGCACAGGAAGAGAAGTGAAAAAGGGGCAGGCTGCAGGGCAGGCCTGGGGGCGGCGGGAAACAAGAAAACCCAAGAGGGTAAGACACTGGGAGGGGGCAGGGTAGGACTAGGACCACTCAGAGATGGGAATGGGGACGGATTGAGTGCAGCCGTGGGTCTTACCCGGGACCAGAATAAGGTGATGACGACCACCAGATGCGCCAGGAGCGTCAGGAAGCGAGAGGGCACAAGCCCTGAGACCCGGCCCATGGCCCTCGGGGACAAGGGCGGCGGTCTCTGAGGCTGGAAGTTCAGAGACAGCGACTCCTGAAGTCTCCCCGCAAGCCGACAAATCTAGACGAACGCCTCCTTCCCGCCCGCTCAGGCACCGCCCAGTTGCCTTGGTAACCGTGTACGCGGGCTCGGCGCCGCGTTCTCGGAAATCCTCGCGAGCAGTACATTCTCCGGCTGCTGCGGGTCTCTCAGGGCCAGCGAAGGTCAGGGGTACCCGAAGGCGCTTCTAACCTAACGGCTGGGTACCCGCGCGCAGCCAGGCCCTTTGTTCCTCAGAGGGTGCGAGGTGGCACAGCCCCGCAGCGCCCGATCTGCCCACGCAGGGCGGATGAACGGAAACCCACCCTGGCCTAGCTTGGGGACACCAATGCTTCTGCTGTTGCCCACGCCGGGAGCGGCCCCCAGCCCCAGCTACGCTGCCCAGTTGTGGATCACTTGAGACCGCTGCCACCACCACGCCGGGCTGAGTTCCCCGCCATGCCGAAGACTCAGACCCGCTCCCCTTCCCCTCCTCTGCATGCCTTTAGCTTCCCACCAAGCTGGGCCTGAGAAACAAGGGACCCGAACCTGGAGAGGCCGGTGTTCCTGGACTGCTCTGCAGTCACAGATTGTCACGGAGCCCCTGGTTGTCTGAGGACCCCAGGCCTGAACCTTCCTTGAGGAAGACTGATTTCTTTCAGACTACTTTGCTCAGTTTGGTGAGGGATTTGCAGAGTGCAAAAAATGGCCAGCGTCCTTAAACTAGCATGGGGATAAGAGCAGAGCAAGGTGGCTGGAAAGAGTGGGAGTGGACGAAGGGAATGGGACAGTCCCTGCGTCTCTGGGAGGCTTGGAGCCGGCTGGAAGGGAAACTCAACTCAGATTTCTTTGTCCCTTGGAGGTGCTGGGCCTCCGACATTGCCCAGCTACAGTCCAAGAAGCTCTTATCATCGGCGACCTCATGACCTTTGGGCCTCAGCGCAGGTCCCTGCAGATCTGAAAGTTCTTTAATTGCTGAGTCAAGTCCCATCCTCAAGGAACCTCCCGGCCCATCTCCCAGGAGAACAATCTCTTCCTACTCCCCACTCCCCATCTCAGTGCTTTTAGCCAGCCTAAACTACAAGCCCAAGAGGCATTTCTCATTCCTTCAACAAATATTTGTATATGTTTATTGATTACCTAGTAAGGGTATTCTAGTCAGGGAGATCAACAACAGACATGCAAACAAATAAATCCGTAAGATAATAGGCGCTACAAACAGGGAAAAGCGGGCTGTGCACTGTGGCTCACACCTGTAATCCCAGCGCTTTAGGAGGCCTAGGAGGGCGGATCACCTGAGGTCAGGAGCTCGAGACCAGACTGACCAACATGCTGAAACCCTGTCTCCACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCATGGGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTCTGCAACAAGAGCGCAACTCCGTCTCCAAAAAAAAAAGAAACGCTAGAATTATAATTCTATAAAAATAGGGCATTTATAATTCTATTAAAATAGAGCATTTATTTTGTTTTATTTTATTTATTTACTTTTTCTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATTTCGGCTCACTGCAAGCTCGGCCTCCCGGGT
|
Task1_train_23763
|
The gene CTC1 (CST telomere replication complex component 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1
|
GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGATTCAGGGAATAGGAAGCAGTAGGTGCAATATAATTCTGTTACCAGAAGGCAACTGGCTCCGGGTAGAAACTTCCGGATAACAGCAGAGGGTCAGAAAACAAAACACACACAAAAAAAAGCCACCCACTGGCCCGTACGGGGTTCGAACCCGCGACCTTGGCGTTATTAGCACCACGCTCTAACCAACTGAGCTAACCGGCCACTAACTTTCCGGGTCTACTTCAAATCTTAATATAGGGTATTGCTACCATAAAAGCAGCATAAATCCCAACATATGGGTTTAACCACGCTCTAAAGGTCTCCCAAACACGAACAAATCCTAACAGCCAGGAAGAAATGGCCTCCCAGTAGCTCTGAAAGATGTGCCTCAGCTCATCTTTCCACCTCTCCATCTATCAGTCCCCAGTAAAGAAATGCAGCAACACCAGCCAAAGGCATTGGTATCTCCAAAGAATTGTTCCTAGATCCCCTAATTGTACGGTTGTGATTTCGGAGCACCTTCTGGTCTCAAGGTATATCGATCAAGGATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTTTGGCCCTGGCGGCAAAGGGCTGAAATGATGATGAACGACTAGGAGTTCCTAGGAGGTGGACAACTAGGAGTCAGGAGGCCTGGGACCCCAGAGATGAGTACCAGTGAGAAATGACACCAGAGGGCTTCATTGCAGGTCAATAGGCCTGTCACCATCACCCCACAGCGAGCAAGTCTTTTGTTCCCTCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAG
|
GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGATTCAGGGAATAGGAAGCAGTAGGTGCAATATAATTCTGTTACCAGAAGGCAACTGGCTCCGGGTAGAAACTTCCGGATAACAGCAGAGGGTCAGAAAACAAAACACACACAAAAAAAAGCCACCCACTGGCCCGTACGGGGTTCGAACCCGCGACCTTGGCGTTATTAGCACCACGCTCTAACCAACTGAGCTAACCGGCCACTAACTTTCCGGGTCTACTTCAAATCTTAATATAGGGTATTGCTACCATAAAAGCAGCATAAATCCCAACATATGGGTTTAACCACGCTCTAAAGGTCTCCCAAACACGAACAAATCCTAACAGCCAGGAAGAAATGGCCTCCCAGTAGCTCTGAAAGATGTGCCTCAGCTCATCTTTCCACCTCTCCATCTATCAGTCCCCAGTAAAGAAATGCAGCAACACCAGCCAAAGGCATTGGTATCTCCAAAGAATTGTTCCTAGATCCCCTAATTGTACGGTTGTGATTTCGGAGCACCTTCTGGTCTCAAGGTATATCGATCAAGGATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTTTGGCCCTGGCGGCAAAGGGCTGAAATGATGATGAACGACTAGGAGTTCCTAGGAGGTGGACAACTAGGAGTCAGGAGGCCTGGGACCCCAGAGATGAGTACCAGTGAGAAATGACACCAGAGGGCTTCATTGCAGGTCAATAGGCCTGTCACCATCACCCCACAGCGAGCAAGTCTTTTGTTCCCTCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGTGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAG
|
Task1_train_23764
|
Here is a variant affecting CTC1 (CST telomere replication complex component 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1
|
TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC
|
TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCAGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC
|
Task1_train_23765
|
A variant found in Chromosome 17 affects CTC1 (CST telomere replication complex component 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Dyskeratosis congenita
|
TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC
|
TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCAGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC
|
Task1_train_23766
|
An alteration has been detected in CTC1 (CST telomere replication complex component 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Dyskeratosis congenita
|
ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAGCCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT
|
ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAACCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT
|
Task1_train_23767
|
A variant has been detected on Chromosome 17 in CTC1 (CST telomere replication complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1
|
ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAGCCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT
|
ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAACCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT
|
Task1_train_23768
|
The gene PFAS, CTC1 (phosphoribosylformylglycinamidine synthase| CST telomere replication complex component 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Dyskeratosis congenita
|
TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCATGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGC
|
TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCGTGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGC
|
Task1_train_23769
|
This alteration occurs within gene CTC1, PFAS (CST telomere replication complex component 1| phosphoribosylformylglycinamidine synthase) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Dyskeratosis congenita
|
TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCATGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGCA
|
TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCACGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGCA
|
Task1_train_23770
|
Here’s a variant in MYH10 (myosin heavy chain 10) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Wide nose
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23771
|
An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Epicanthus inversus
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23772
|
Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance.
|
Pathogenic; Hypertelorism
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23773
|
Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance.
|
Pathogenic; Abnormal facial shape
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23774
|
Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Congenital ptosis
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23775
|
Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Midface retrusion
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23776
|
A variant found in Chromosome 17 affects MYH10 (myosin heavy chain 10). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Congenital ocular coloboma
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23777
|
Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Wide nose
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23778
|
Here is a mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Epicanthus inversus
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23779
|
An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hypertelorism
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23780
|
A genetic alteration is present in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Abnormal facial shape
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23781
|
The following genetic variant occurs in MYH10 (myosin heavy chain 10) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Congenital ptosis
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23782
|
Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Midface retrusion
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC
|
Task1_train_23783
|
The variant affects gene NTN1 (netrin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Mirror movements 4
|
GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGG
|
GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGCGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGG
|
Task1_train_23784
|
Here is a variant affecting NTN1 (netrin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Mirror movements 4
|
GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGGC
|
GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTCCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGGC
|
Task1_train_23785
|
Given this variant in gene CFAP52 (cilia and flagella associated protein 52) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; not provided
|
ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGATGTGTCAGACATGGTGCAAAACCCCTTCCTTAAATGATCTCATTCGATCTTCATAAACGCCTAATGAGATAGGTACCATTTTCATCCCTGCTTTACAGATGAGAAAACTGAGGCTCTTAACATTGGAAATCTCCTGGCTTGCAAGTAATAGAGCTGAGATTTCAACCCAGGCCGACTGGCTGCAGAACCTGTGCACTTGAATGACGTCATCTATAGTTTTAAAAAGTTTATTTAGAAATCACACATATGTAGCTTCGAGGCGCTGTTGAACTCTTTACCACTTGCATCCCCAAGTCCCCAGATAAATGCTAAAAAATTCACTCCATGTTTTGTCTCCTCATAGGCTGAGCCTTCATCCTGTTGTCCTGCTGAGGCACTTAGGAAGTTAGGGGTGAGGGGTGGAAGCTGGGGAGCATGTAATTCTGGTCCTTGCCTTCACATTCTTGAGCCTTGGTTTCTCTTCTCAATCACAAAATGTCTTTTGAGCCACAACAGGCTAAATTCAGTGTAAAGTAACTTGAAAGGGCAGGATATTTGTTTTATCATATTCAAAATTCATTAAGACACAAACCTATACAGTCACTAGCTATACTGAATGTTTTAAAATCAAATGTTGTGGCTGAGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCTGAGGCAGGAGGATCACTTCAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAACCAGGCATGATGGCGCATGCCTATAATCCCAGCTACTCTGGTGGGTGAGTCACAAGAATCGCTTGAACTTGGGAGGCAGAGAGTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGTCTGAGTGACAGAGAGAGACTCTGCCTCAAAAAAACAATAGTAATAACAAATAAATAAAATAAAATATTGCTCACGCACATTTTAAAATTAGAACTTCACAGTGGATACTATAAAACAACCATCATACATTGTCAAGCCTTTTTTTTCTTTGGAGAGAATGGTGGGGGGCACCCCAACCTTTGAAGAGCACTTTAAATTTTAAATATGTTTCCCACTCTTATGTAGTACATGTTGTAGTTCAGATAATACAGTCGCCAAACAATAAGAAGTCTATTGTGCTTTCTTGGGATATTAAATATGGTCCCTTTGCATTTGTAAGAATTAAGTTCTGGTGAAAACAGTGGCAGCTGAGAGACTAGCATTGCTGAGGTTATGCTTATACCTTCTCTTGGCTGCATTTGAGTGGATGTAAAAGTGTTAATTTTTAAAATATTCAAAATGCACCAGTGGTTTTAGGGAGGAAGGATGGTGAAGCCTGTTTGCATCCTGTAGGCCCAGGAGGGTTACTTCCTGGCAAGTGAGCTTGTTGTTGGCACTGAATCCCCTTGGTCAGCCTGGGGGTGCATCGCGAGCAGAACCTTCATGAACATCCTCCAGGCAATGTGTGCAGCACTGGCATGACTTTGGCCATCTTTAATTCATCTTTCATTCAGCTTTTTTCTTTTTTTCATTAATATTTAAAATTTTTTTTATTGCCATATGTTTTTGGGGAACAGGTGGTATTTGGTTACATGAGTACATTCTTTAGTGGTGATTTGTGAGATTTTTGTGCTTTTTCTTAACACAGTTTTTCCCCCTAGGGAGTGTCAGCTATCAGGTGCCTGAAGATGGGGGGTTTGTTGGTGGGCTCTGGAGCCGGACTGCTGGTCTTCTGTAAAAGCCCTGGCTACAAACCCATCAAGTAAGTTCCGGGTCTCACACAGTGGGGCTGGGTAGAGACCCACTAAACGGAGATTTGCTTAAAGCCAGCAACTCGATGATATCGGCAAAGTGATATTTGGTTAAAAAATTTCATCTTGCTGTTAGAATGAGTAGTTGGAATCACAATAGATGGTGGCTTCTTTGTCAACGAAAAGACAAAAGCTTATGTTGAATCAAACCAAAGTAGTCCACTATTACCCAGAGGGACACTGCCCATTTAATAAATACATAAGTTTGTATTTAGCTAACACATTGAGCCATGATGAAAGGAACGGGATGTTATAAACTTATCCAAGAAATAACCCCCAATGTTAAATGTTCAAAATTGGTTAACTCAATGAAATTTATTATGCAATGGGTACCTATTATGTGCAAAGCATTGTGTTAATCATGCATTTGAATACAATTTATAATAGAAATAGCCAGCATTCACCAGCCATTTCTATATGCCAGATACTCTGCTATGTATGTTTCTTGGCTCATTTAATTAAAATAAAATGAAACAAAACCTTATTTATTGCCATAACAATGTGCTTATTCAGCACCTCCTCCAACCAAACCAATGTATTAGATACTATTAATAAAATAAAGAAAAATAAGCTATGGTCTTTGTCCTCCCAGAACTTACAGACTCGTTTGGGGCTAAGGTATGTACACACGAAAGAAGTCACTACCAGACAAGATAGGATATTAGCACATGGTCCAGATAAAGTAAAATATATTATGAATGTTGTAGAGATCAGAGAAGAGGATGACCTTCTCGGGATGGAAAGATCAGGGAGGACAGTTCACAGAGGGATGGGCTTAAACAAAAACCAGATACCCCACACATGTGCTTTATGGCCTCTGCTACCCCCAGGAAGCCAGGGGTAGTTGCACACATGTTGTAGAAATGAGCACCAGCTGTCTTCATTCCAAGAAATCTGTGTTGAACATTCACGGGGTACCAGGCATCATTCTAGGTGCTTAGGATATCTCAGTGAATAAAACATAAAAGATGAAAAAAAAAATCCCTGTCCTCATGGAGCTTACATTCTAGCAGGAAGGAAAAGGCAATAAATAAGAAACAAAATAAACAAGGAAAGTACATAGTATTAGAGGGTGATAAGTACAATGGAGAAAAATGAAGTAGGATGCAGAGTAAGGGGATTATGGTTTGAATAGAAGCAGGGAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCTCTTTGGGAGGTCGAGGCAAGTGGATCGCTTGAGCCCAGGAGTTCCAGCCCAGCCTGGGCAACACAGTGAAGCCTCATCTCTACAAAAAAATACAAAAATTAGCCAGATGTGGTGGCACATACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCGGGAGGATTGATTGAGGTTGATCAGTCAACCTCAAGGTTGAGGCTGGAGTGAGCCATGATCATGGCACTGAACTCAGCCTGGGTGACAGAACGAGACCTCGTCTCAATTTTTTTTTTAAATAAAAAAGCAGTGTATACATTGCCATTTTAAATTCAGTGGTCAAGATTGGGCTTATTGAGAATGTTTTAGACCAGTTTCATGCTTGTATGAAGGGAAATGAGGGAGGGAGGAGTCTTTAGAACAATATTGGAAGCCTTCCAGGTTATTATACATGCTCAAGTTTGAAAGCCACAGCCCCAGAGAATGCTGGGAGCAGCATTCATCAGGAGCCTGGTGCCTGGACAACCTCATGGAATAGACACTTATAAAACCTGGAATCTGATTTCTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAAGCTCCTCTCTTAATTTACAACCGAACCTGAATCCTAATACAGGTGAGGTGGGGGAGAGGAATGATGAGAAACTTAACCTTAAAATAGCAACAATCAGGAGAGGAAAGAAATAACATCCAAGTATTGTCGATAATACAAGATGCAAGAAATAAAATCAAGTAAAAAACAAACTATGTTGGG
|
ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGATGTGTCAGACATGGTGCAAAACCCCTTCCTTAAATGATCTCATTCGATCTTCATAAACGCCTAATGAGATAGGTACCATTTTCATCCCTGCTTTACAGATGAGAAAACTGAGGCTCTTAACATTGGAAATCTCCTGGCTTGCAAGTAATAGAGCTGAGATTTCAACCCAGGCCGACTGGCTGCAGAACCTGTGCACTTGAATGACGTCATCTATAGTTTTAAAAAGTTTATTTAGAAATCACACATATGTAGCTTCGAGGCGCTGTTGAACTCTTTACCACTTGCATCCCCAAGTCCCCAGATAAATGCTAAAAAATTCACTCCATGTTTTGTCTCCTCATAGGCTGAGCCTTCATCCTGTTGTCCTGCTGAGGCACTTAGGAAGTTAGGGGTGAGGGGTGGAAGCTGGGGAGCATGTAATTCTGGTCCTTGCCTTCACATTCTTGAGCCTTGGTTTCTCTTCTCAATCACAAAATGTCTTTTGAGCCACAACAGGCTAAATTCAGTGTAAAGTAACTTGAAAGGGCAGGATATTTGTTTTATCATATTCAAAATTCATTAAGACACAAACCTATACAGTCACTAGCTATACTGAATGTTTTAAAATCAAATGTTGTGGCTGAGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCTGAGGCAGGAGGATCACTTCAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAACCAGGCATGATGGCGCATGCCTATAATCCCAGCTACTCTGGTGGGTGAGTCACAAGAATCGCTTGAACTTGGGAGGCAGAGAGTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGTCTGAGTGACAGAGAGAGACTCTGCCTCAAAAAAACAATAGTAATAACAAATAAATAAAATAAAATATTGCTCACGCACATTTTAAAATTAGAACTTCACAGTGGATACTATAAAACAACCATCATACATTGTCAAGCCTTTTTTTTCTTTGGAGAGAATGGTGGGGGGCACCCCAACCTTTGAAGAGCACTTTAAATTTTAAATATGTTTCCCACTCTTATGTAGTACATGTTGTAGTTCAGATAATACAGTCGCCAAACAATAAGAAGTCTATTGTGCTTTCTTGGGATATTAAATATGGTCCCTTTGCATTTGTAAGAATTAAGTTCTGGTGAAAACAGTGGCAGCTGAGAGACTAGCATTGCTGAGGTTATGCTTATACCTTCTCTTGGCTGCATTTGAGTGGATGTAAAAGTGTTAATTTTTAAAATATTCAAAATGCACCAGTGGTTTTAGGGAGGAAGGATGGTGAAGCCTGTTTGCATCCTGTAGGCCCAGGAGGGTTACTTCCTGGCAAGTGAGCTTGTTGTTGGCACTGAATCCCCTTGGTCAGCCTGGGGGTGCATCGCGAGCAGAACCTTCATGAACATCCTCCAGGCAATGTGTGCAGCACTGGCATGACTTTGGCCATCTTTAATTCATCTTTCATTCAGCTTTTTTCTTTTTTTCATTAATATTTAAAATTTTTTTTATTGCCATATGTTTTTGGGGAACAGGTGGTATTTGGTTACATGAGTACATTCTTTAGTGGTGATTTGTGAGATTTTTGTGCTTTTTCTTAACACAGTTTTTCCCCCTAGGGAGTGTCAGCTATCAGGTGCCTGAAGATGGGGGGTTTGTTGGTGGGCTCTGGAGCCAGACTGCTGGTCTTCTGTAAAAGCCCTGGCTACAAACCCATCAAGTAAGTTCCGGGTCTCACACAGTGGGGCTGGGTAGAGACCCACTAAACGGAGATTTGCTTAAAGCCAGCAACTCGATGATATCGGCAAAGTGATATTTGGTTAAAAAATTTCATCTTGCTGTTAGAATGAGTAGTTGGAATCACAATAGATGGTGGCTTCTTTGTCAACGAAAAGACAAAAGCTTATGTTGAATCAAACCAAAGTAGTCCACTATTACCCAGAGGGACACTGCCCATTTAATAAATACATAAGTTTGTATTTAGCTAACACATTGAGCCATGATGAAAGGAACGGGATGTTATAAACTTATCCAAGAAATAACCCCCAATGTTAAATGTTCAAAATTGGTTAACTCAATGAAATTTATTATGCAATGGGTACCTATTATGTGCAAAGCATTGTGTTAATCATGCATTTGAATACAATTTATAATAGAAATAGCCAGCATTCACCAGCCATTTCTATATGCCAGATACTCTGCTATGTATGTTTCTTGGCTCATTTAATTAAAATAAAATGAAACAAAACCTTATTTATTGCCATAACAATGTGCTTATTCAGCACCTCCTCCAACCAAACCAATGTATTAGATACTATTAATAAAATAAAGAAAAATAAGCTATGGTCTTTGTCCTCCCAGAACTTACAGACTCGTTTGGGGCTAAGGTATGTACACACGAAAGAAGTCACTACCAGACAAGATAGGATATTAGCACATGGTCCAGATAAAGTAAAATATATTATGAATGTTGTAGAGATCAGAGAAGAGGATGACCTTCTCGGGATGGAAAGATCAGGGAGGACAGTTCACAGAGGGATGGGCTTAAACAAAAACCAGATACCCCACACATGTGCTTTATGGCCTCTGCTACCCCCAGGAAGCCAGGGGTAGTTGCACACATGTTGTAGAAATGAGCACCAGCTGTCTTCATTCCAAGAAATCTGTGTTGAACATTCACGGGGTACCAGGCATCATTCTAGGTGCTTAGGATATCTCAGTGAATAAAACATAAAAGATGAAAAAAAAAATCCCTGTCCTCATGGAGCTTACATTCTAGCAGGAAGGAAAAGGCAATAAATAAGAAACAAAATAAACAAGGAAAGTACATAGTATTAGAGGGTGATAAGTACAATGGAGAAAAATGAAGTAGGATGCAGAGTAAGGGGATTATGGTTTGAATAGAAGCAGGGAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCTCTTTGGGAGGTCGAGGCAAGTGGATCGCTTGAGCCCAGGAGTTCCAGCCCAGCCTGGGCAACACAGTGAAGCCTCATCTCTACAAAAAAATACAAAAATTAGCCAGATGTGGTGGCACATACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCGGGAGGATTGATTGAGGTTGATCAGTCAACCTCAAGGTTGAGGCTGGAGTGAGCCATGATCATGGCACTGAACTCAGCCTGGGTGACAGAACGAGACCTCGTCTCAATTTTTTTTTTAAATAAAAAAGCAGTGTATACATTGCCATTTTAAATTCAGTGGTCAAGATTGGGCTTATTGAGAATGTTTTAGACCAGTTTCATGCTTGTATGAAGGGAAATGAGGGAGGGAGGAGTCTTTAGAACAATATTGGAAGCCTTCCAGGTTATTATACATGCTCAAGTTTGAAAGCCACAGCCCCAGAGAATGCTGGGAGCAGCATTCATCAGGAGCCTGGTGCCTGGACAACCTCATGGAATAGACACTTATAAAACCTGGAATCTGATTTCTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAAGCTCCTCTCTTAATTTACAACCGAACCTGAATCCTAATACAGGTGAGGTGGGGGAGAGGAATGATGAGAAACTTAACCTTAAAATAGCAACAATCAGGAGAGGAAAGAAATAACATCCAAGTATTGTCGATAATACAAGATGCAAGAAATAAAATCAAGTAAAAAACAAACTATGTTGGG
|
Task1_train_23786
|
This gene mutation involves MYH8, MYHAS (myosin heavy chain 8| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Hecht syndrome
|
AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCAGTCTTAACTGATTAATTGGATTGTTAATATTTGCGAGGCATTCAGCATCTGTTGAGCTCTAAAATTTATTTTATTGAAATAAAGTGAAAAATAGTAATAAAAGGTACCCCTACTGCAAACTATAGCCATAGACTGGCTAGGTTTGACTACTTGTAGCAATGTGTATGTTTCTTCAAGCTTGTTAAAATGGAAATTCTATCTCTATAGGTCCAGTTTTTAAGACTTGTAACTCTATGAAAGCAGATACCTTGACACAAACCATAACGTTCACACATGGGAAAGACTCAGGAACACTTCCAGTGCAGGCCTAAATGATTACAGATAAGAAAAATGAATGCACAGTGTGTGTGTAAGTAGAGGGAATGCAATAGTGTTGGGTAGATAAACTGGGTGAGATTAGTTACAGAAAGGGGAAATTAAAGTTTTAAATTGGTAAATAGATAAATTAGGATGAGGGGAGAGATGAGATAAGAAGATAAGCAAATGAGAGATTAGTAGATAAGCAAATTGTTTAGCCTGGCTGGAAAAGGCTATGTGCTTGGAAATGATAGATGAGGTGGGGAATAGAGAGGGCCTTGACAGGCAAGCAAGCAACTAGCTTGATGAAAATACTGCTTACTGCAAACTATTCCTGTGGCTGTATGTGAGATGGCTGGAGGTAGGAGAGAAGTTTTGAAAGGAATCCAAGTGTGAGAGCTGAAGCAAAGGCTGCTGTGTTGTAGGAGTGAGTTCTGAATTGGGTGAGAGGAACTATTAGCCACCAAATGAAAGAATTAATGAATGAACAAGACTGATTGATAGTCCTTAAGGGACCTTATAATTCTGATATTCTGAATGATTGTTACCTCCTTTGCAACATCTTCTGATATTCTACCCTCATTAGGAATCCCCTACAGACAGCTTGTGTTCTTGTTATAATTTGGGCTAATTTTTCATCTCTCATTTCTTCCAGAAGACCCAGAAGTCCAGCTTTGAAGAAAACCTGGAGAAAGAGAGAGTCACAAATCATCTCCATACTGCAGGAGATGCAGAAATGGCAGAAGGTACTTGGATCAGGTGTAAATAAATAACGATATACCTTGGTATGTCCAAATTTATATTGAGTATGATCAATATCAATAGATGCAAGAAGTTTCTCAGAAGCCTTCTTGCTGTCAATGAACTGTCCCTCTGGAATAGCACTTGCATTTAAAACCTTGTATCTGCTCAGTTAAAGAAAGAAAGAATGGTTAGGAAAATGTGACCACATGCCAACAAAATGACACCAAAAAGAAATATCAACAAACATCTGAGAGTAGAAATAAAAGTGGAAAATCCAACTGCCGTTTAAGGACAGATAGTAAAACAATATGATTTTCTGTTGCATGCCTGCTTCCTGTTATCCTTCTAACCTGTTGTATTATCCTACCACCACAAGACTATATTATTCGACTTCTTAATTTTTTAATACATACTAATTCACAGTGTTAATGAAATACATCAAAGAAGACTGACCTTTGTTTGAAATCACCATATAAGATTCTGCTTGGGAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCATTACACCTCAGCTGGTGCAACACAAGTTCATGTTCCATTGCCCCTAAAAATATAGAACAGTACTTATTAGTGGGCATTTAACTTTCAAACCTGTGCCCGTTTGATTATTTCACTCTCTGTGTCTTACCAGGAGTTTTGGTTTCATTGGGAATGATACACCGTACGAAGTGAGGGTGTGTGCTCCTCAGATTCGTCATCAATTTATTTAAATTTTCCTAGAAAACCAGACAGAAAGGACTTGATGAAAAAGTTCTATTTCAGGTTGTTTTTTGTAATTATATGGAATGAACCTAGACAGTCCTTTAACTACTAGGCATGCATCTGTGAGGCTTCAATTGCTCTGTATTTTGAGGGTCTCAAGAGTTCTAGCCTGCCAAATAACAAAAAGGCCAAAGTGGTTGGAAGGAATGCACATCTCCAAGGTATTCCTTTGTAACACCAGGGATCTGTCTCATAAACAAATTGCAATTCAGTAACCTTGTGATGTACAAGGAAGGGTTCTCAACCGAGAATCACAAGACAAAACATGATGGCTTTGCTATGCCACTAATGAACTGCCTGACTGTATAAAATCCATTTTTTCTCTGGGCATTATCTGAGAATAGTTGAGATTGTTTGTGAGGTCTCTTTCATCTCTCTCAGTGCTAATAATTTTCACAGTAGCAGTTTACAGTGGTAACCTAAGTTAGCAATTGTCCTAACTTTTGCCTTTCCTTCCTTGAGTGTAATATTTCCTGGGACCTCTTACCCTCTTGTTTTCTTTTGATTTTTGAAGAGTCTAAAATTGTGAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCAAAGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACGTAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTCTGGTGACGGGTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACCTGATACCAGGAGGCAGAGTTTGCAGTGAGCTGAGATTGTGTCACTGCACTACAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAAAAAATAAATAAATAAAATAAAATAAAATTATGAAACTATATAACCTTGGGTTGGTGGGTGTTGGGTACCTGAGACTAGATATACTCTTAAGAAGGCAGATTTTTTTTTTTTTTTTTGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTCGGTCCACTGCAACCTCTACCTCCTGGGTGCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCACTATGCCCGGCTAATTTTTATATTCTTAGTAAAGATGGGGTTTCACCATATTGGCCAGGCTGGTGTTGAATTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCAAGAAGGCAGATTTTTTTTCCCACAGCTCAGTTAACCATTAGGAAATGAAGAAAATAAGTAATGTGAGTTCCTAATTTTGAAAACATGTATGAAAACAAGTTGATAAAACAAAAGTCTATTTGGTAAGATAATGCAAATTGGTTGTGAGAAAGAAAAAGAACAAGAGTAGTTTTCTTGTTTAGATCATAGGTCGTATGTCGTGTCTGTATTTTAGTTTTATAAGGAATGAGACTTAGCCATACACATTTTGATTAAAAAGCCATTATTAGTCCATATATAAGAACAAGTTTTTAAGCTACATAGGAAAATCACATTACTTTGTAGTGAAATTATTATTCTTTAATCTCAAGAGATATTTCGTATCTTAATGATCCATTTAAGTCACTGGGCTTGGCTTTAGATGATTTTCAGCTGTAATGAAAAATTAAATTCACCTCAGAGGACAAAGATATGTTTTGGTGAAAGATGTTATGAAGAGTGTATCTGAGGCTCATTCTCAAAGAGGAACTCAGGAACATTTTCAAAGGGCAGCATTCAAAGCGGAATAAGAATATGACCTTCCACAGGGACAGCTTTGAAGTTTAGCTATACTTCTTTAGAAATCAGCCTCATTATATAATGAGAAAGTTTCTAAGGGCATTTTGGCAATCCTGAATACATTAGATAATCGTAATAAGGAATAATGGGTAAAGCATCCGTTCCTACAGGAGTAGTATTTCTTTGGCTATACTC
|
AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCAGTCTTAACTGATTAATTGGATTGTTAATATTTGCGAGGCATTCAGCATCTGTTGAGCTCTAAAATTTATTTTATTGAAATAAAGTGAAAAATAGTAATAAAAGGTACCCCTACTGCAAACTATAGCCATAGACTGGCTAGGTTTGACTACTTGTAGCAATGTGTATGTTTCTTCAAGCTTGTTAAAATGGAAATTCTATCTCTATAGGTCCAGTTTTTAAGACTTGTAACTCTATGAAAGCAGATACCTTGACACAAACCATAACGTTCACACATGGGAAAGACTCAGGAACACTTCCAGTGCAGGCCTAAATGATTACAGATAAGAAAAATGAATGCACAGTGTGTGTGTAAGTAGAGGGAATGCAATAGTGTTGGGTAGATAAACTGGGTGAGATTAGTTACAGAAAGGGGAAATTAAAGTTTTAAATTGGTAAATAGATAAATTAGGATGAGGGGAGAGATGAGATAAGAAGATAAGCAAATGAGAGATTAGTAGATAAGCAAATTGTTTAGCCTGGCTGGAAAAGGCTATGTGCTTGGAAATGATAGATGAGGTGGGGAATAGAGAGGGCCTTGACAGGCAAGCAAGCAACTAGCTTGATGAAAATACTGCTTACTGCAAACTATTCCTGTGGCTGTATGTGAGATGGCTGGAGGTAGGAGAGAAGTTTTGAAAGGAATCCAAGTGTGAGAGCTGAAGCAAAGGCTGCTGTGTTGTAGGAGTGAGTTCTGAATTGGGTGAGAGGAACTATTAGCCACCAAATGAAAGAATTAATGAATGAACAAGACTGATTGATAGTCCTTAAGGGACCTTATAATTCTGATATTCTGAATGATTGTTACCTCCTTTGCAACATCTTCTGATATTCTACCCTCATTAGGAATCCCCTACAGACAGCTTGTGTTCTTGTTATAATTTGGGCTAATTTTTCATCTCTCATTTCTTCCAGAAGACCCAGAAGTCCAGCTTTGAAGAAAACCTGGAGAAAGAGAGAGTCACAAATCATCTCCATACTGCAGGAGATGCAGAAATGGCAGAAGGTACTTGGATCAGGTGTAAATAAATAACGATATACCTTGGTATGTCCAAATTTATATTGAGTATGATCAATATCAATAGATGCAAGAAGTTTCTCAGAAGCCTTCTTGCTGTCAATGAACTGTCCCTCTGGAATAGCACTTGCATTTAAAACCTTGTATCTGCTCAGTTAAAGAAAGAAAGAATGGTTAGGAAAATGTGACCACATGCCAACAAAATGACACCAAAAAGAAATATCAACAAACATCTGAGAGTAGAAATAAAAGTGGAAAATCCAACTGCCGTTTAAGGACAGATAGTAAAACAATATGATTTTCTGTTGCATGCCTGCTTCCTGTTATCCTTCTAACCTGTTGTATTATCCTACCACCACAAGACTATATTATTCGACTTCTTAATTTTTTAATACATACTAATTCACAGTGTTAATGAAATACATCAAAGAAGACTGACCTTTGTTTGAAATCACCATATAAGATTCTGCTTGGGAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCATTACACCTCAGCTGGTGCAACACAAGTTCATGTTCCATTGCCCCTAAAAATATAGAACAGTACTTATTAGTGGGCATTTAACTTTCAAACCTGTGCCCGTTTGATTATTTCACTCTCTGTGTCTTACCAGGAGTTTTGGTTTCATTGGGAATGATACACTGTACGAAGTGAGGGTGTGTGCTCCTCAGATTCGTCATCAATTTATTTAAATTTTCCTAGAAAACCAGACAGAAAGGACTTGATGAAAAAGTTCTATTTCAGGTTGTTTTTTGTAATTATATGGAATGAACCTAGACAGTCCTTTAACTACTAGGCATGCATCTGTGAGGCTTCAATTGCTCTGTATTTTGAGGGTCTCAAGAGTTCTAGCCTGCCAAATAACAAAAAGGCCAAAGTGGTTGGAAGGAATGCACATCTCCAAGGTATTCCTTTGTAACACCAGGGATCTGTCTCATAAACAAATTGCAATTCAGTAACCTTGTGATGTACAAGGAAGGGTTCTCAACCGAGAATCACAAGACAAAACATGATGGCTTTGCTATGCCACTAATGAACTGCCTGACTGTATAAAATCCATTTTTTCTCTGGGCATTATCTGAGAATAGTTGAGATTGTTTGTGAGGTCTCTTTCATCTCTCTCAGTGCTAATAATTTTCACAGTAGCAGTTTACAGTGGTAACCTAAGTTAGCAATTGTCCTAACTTTTGCCTTTCCTTCCTTGAGTGTAATATTTCCTGGGACCTCTTACCCTCTTGTTTTCTTTTGATTTTTGAAGAGTCTAAAATTGTGAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCAAAGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACGTAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTCTGGTGACGGGTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACCTGATACCAGGAGGCAGAGTTTGCAGTGAGCTGAGATTGTGTCACTGCACTACAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAAAAAATAAATAAATAAAATAAAATAAAATTATGAAACTATATAACCTTGGGTTGGTGGGTGTTGGGTACCTGAGACTAGATATACTCTTAAGAAGGCAGATTTTTTTTTTTTTTTTTGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTCGGTCCACTGCAACCTCTACCTCCTGGGTGCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCACTATGCCCGGCTAATTTTTATATTCTTAGTAAAGATGGGGTTTCACCATATTGGCCAGGCTGGTGTTGAATTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCAAGAAGGCAGATTTTTTTTCCCACAGCTCAGTTAACCATTAGGAAATGAAGAAAATAAGTAATGTGAGTTCCTAATTTTGAAAACATGTATGAAAACAAGTTGATAAAACAAAAGTCTATTTGGTAAGATAATGCAAATTGGTTGTGAGAAAGAAAAAGAACAAGAGTAGTTTTCTTGTTTAGATCATAGGTCGTATGTCGTGTCTGTATTTTAGTTTTATAAGGAATGAGACTTAGCCATACACATTTTGATTAAAAAGCCATTATTAGTCCATATATAAGAACAAGTTTTTAAGCTACATAGGAAAATCACATTACTTTGTAGTGAAATTATTATTCTTTAATCTCAAGAGATATTTCGTATCTTAATGATCCATTTAAGTCACTGGGCTTGGCTTTAGATGATTTTCAGCTGTAATGAAAAATTAAATTCACCTCAGAGGACAAAGATATGTTTTGGTGAAAGATGTTATGAAGAGTGTATCTGAGGCTCATTCTCAAAGAGGAACTCAGGAACATTTTCAAAGGGCAGCATTCAAAGCGGAATAAGAATATGACCTTCCACAGGGACAGCTTTGAAGTTTAGCTATACTTCTTTAGAAATCAGCCTCATTATATAATGAGAAAGTTTCTAAGGGCATTTTGGCAATCCTGAATACATTAGATAATCGTAATAAGGAATAATGGGTAAAGCATCCGTTCCTACAGGAGTAGTATTTCTTTGGCTATACTC
|
Task1_train_23787
|
The gene MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Myopathy, proximal, and ophthalmoplegia
|
ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGAGAATAAAAATGGAATTGTAAGGAACTCATACTTGCATCTTTCTAGACTCTTTAGACCTAATAGAAGAAAGGACTTGGCATCTATGGAGAAGCAACATCTAGGGATTATCATTGAAATTAATTTTAAGATTTGTTTATTGATGTCATATATATATATATATATATACACACACACATACATACATACGTATCTCACATTCCTATTTTGGCAACCAAAACACATAAAATATATGTACCACAAGTAGAATAAGAAGAAAAATATAAGCTTAGAGAGGAAGGCAAGAATATTAAAGTCATAGTTGTTAATGCTTGCTATAAGATGATGATTTTCCCTTGAGTTAGATTTTTTTTATCATATTAAGAATGAACTTATTAAGTTTTTAAAAATTGAAATAAATATTGGATTTTGTCATGTATCATTTTGGCACATTTCAAAATGGTTACTTTTTTCCTCCTGCATTGGATGTAATGATTCTATTGACAGATAACCTAATATTAGGTAATCTTTACATTGTAAGAATTAACCTTATTTAATCACTGGAAGACAATTCCTTTAATAAAGTAAGACTTACTACTTAGTAATTTATCTTTGCTGTAACTGTCTTTATGAGTAAAATTGCCTTTAGTTTTTCTCCCTCTGTCCTCTCTTGGGCAGGTTTTGGTATGAGGGTTATGTGAGCTTCTTAAAATGAACTGGACAGCTTTCTATCTTTTCCCATGCTCTTGAACAGCTACATAGCTGGGGGATTATCTGTTCCTTGAAATTTTGAAAGACCTATCTGGACTTGGGTCCATTTCCAGAAGTAATTCAGCCAACTTAGTAATTTATATCCTCCTAGAAAAATCATCAATTTTTTTCAGGGTTTCAACTTTATTGATAGATGTGTTTTATATTAAAAAATAATCCTCTATGTATATAGCTTATTCCCTTTCTCATTTCTAATGTTGTTTATATTTTCTCTCTTATTTTCCTTGATGAAACTAGTTATAATACATTTATTTTATTAATTCCCCAGAAGTTACAAATATTACTGAAGTTATCAAATAGAAAATAGTATACTCTAATTCACCAATTTCTACTTTTATTTTTAACAGTACTTCTTACTTCTACTGTTTTATTATTATTTATAATTTATTTATTGGACTGTCTGTTTGTTTATTTTTACTTTTGGTTCATAATGAAAGCATTTAAAGCAATGAATTAGCCTCCTAGCACAGCTTTGACTACATTCTGTAGGTTTGTAAAAGTAGCATCTTCCTTGTGATTTTACTTATAATTAATAATTATTTAGTAATTATGTTTTTATTTTTACTTTAAACCAAGAGTTATTTAAGAAAGTTAGTTTTTTTAATATTTAAGTACTCAAGAATTTTTGCTTATATTTTGTCATCACTTTACAACTCCGTCATACTGTGGCCGGAGAATATGGCCTGTATTATTTCTGCTTTTAATTTTTTTCAGGATTCTTGGTGGATTGAAAGTTTACTTTTAAAATGAAGCTACTGATATTACAAATGATACACAAGAATTATTGTACAAAAACAAATGTTAAATATGCATGCAGTAGTCTTTAAAGCAAACAGCTTGTTCACTACAAGAAGTAGTAATTATTTATTAGCTTAATTTGAGGACTTCAATCTTAAAAATACTTACAGCCTCCTCAGCTTGTCTCTTATAAGATTTCACTTTTGCCTGAAGTTTATCTACCAAATCTTGAAGCCTGAGAATATTCTTTCTATCTTCTTCCGTCTGAAAGATTATAAAAAGTCCAGGACCTTAATTACTAAAGCACATGACTATTGCATCATTGCATATGAGTATTTCACATAAACTTCGACCAGTGCTTAGCCGCTAAAAACTACTGGCTGTACCTGGTAAGTGAGTTCCTTCACTCGCCTCTCATGTTTGCGCAGACCTTTGACAGCCTCAGCATTACGCTTTTGCTCACTCTCAACCTCTCCTTCCAGCTCCCGTACCTGCAAATAAGTAGGCTCTTAAGAACTTTGATCCAATAAGGCACTGAAAGCAGATGGAAATAGACAGATATTGGGAGACCCACCCTGGCCTCCAGTTTCTGGATCTGCTTCTTCCCACCCTTCAGGGCCAGCTGCTCAGCCTCATCCAGACGGAGCTGCAGATCCTTCACGGTCTGCTCCATGTTCTTCTTCATCCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCAGCCATCATGGCGGCCTAAATAGCAAATAAATCAAGAAAACCAAGAAAGTTATAGATGTCAGGAAATCTTACTGCTAAATCAGTGGACAAGTGTGCCTGCCACTCACATCAGTGATGGCCTTCTTGGCCTTTTCTTCTGCATTGCGGGCTTCCTGGAGAATGTCCTCCATCTCTCCTTGCATTTGGGAAATATCTGTCTCCAGCTTCTTCTTGGTGTTGATCAGGCTGGTGTTCTGTTTAAAAAGAATTTGTACATTTAAAAAATTGTGTTACCAAAGTATTTATTGGTAACCACTTCTTGAAAAAAATTCAGATAAAAATTTGCAAGTCAAAAAATGCCTTTTAATATTAAAGAATTAAAGGATTGTGTTATGTAATATGATTAAATAAAATATAAATGTTATAGAATATTCAGCATCTTCAAGTGTATAGGTCACAAGCAGACCAAGTAGCTCTATAATTTTATAATTATCATTTACCAATAGACCATTCACAGGGATAAAAGTATAATGGACTTTCTCATAACATTCCATTTCTCCAGAATGAAATGTGAATATTGATAATGAGGGCCAATAAAGATATTAACACAATAGAATACGGGGGCAGCCTTAGAATATTATATGAAGCAAATCAACAATAGTTTTTCAAAGCAAAACAGTGAAAGATTTCTCAGTAATGCAGAATTACTATTCTGTATTATTTGAAAAGAAAATTTGATAGACATATTAGGTCTAGCTGTCTTATGAAAACTCAGGCTTATCTATTCTGGGACATATAAAATTTACTAAGGAGAGTTCTTTGTGCTGAATCCCACCTGGGTGTGCAGTAGCTGAACACGCTCACTGGCATCCAGGAGCTCCTGTTCTGCGATTTTTCTGCTCCTCTCTGTCTGTTCCAGAGTGGCCCGCAGCTCCTCGATCTCAGCCTGCAGCAGGTTGGCTCTGCGCTCCACCATGGCCAGCTGTTCCTTCAGGTCCTCCTGGCTCCGGAGAGCATCATCCAGGTGGATCTGGGTATCCTGTGAAACAAACCATCATTGAGACATCATGTTCTCAGGGTTGCAGGCACCCCAATAGTCCTGGGACCATCTCTTGGACATATTTACCTTGAGGATGCCTTGGGTGTTCCTGTAGTTCCTCAGGGCCTCAGCAGCCATGCGGTTGGCATGGTTCAGCTGGATTTCCATTTCATTGAGGTCTCCCTCCATCTTCTTCTTGAGCCTAATGGCATCATTCCTACTCCTGATCTCAGCATCCAGCGTGCTCTGCATGGACTCCACGATTCTAATGTGGTTTCTCTTCAGCTGGTCAATTTCCTCATCTTTTTCAGCAATTTTCCTATCAACCTCAGACTTGACTTGGTTCAACTCAAGCTGGATGCGCAGGATCTTTCCCTCTTCATGTTCAAGAGATGCCTTAATGACAGCAAGAGGTGACATTAGCAAGGAACCAAAAGCTTTATGAAGTTTTTCTGCACAGCAATAATTTTGTGCTATGTGTCTTTTTATTCACTCTATGCAGATGTACCTAATTATTTTCCAGATTTTTTTA
|
ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGAGAATAAAAATGGAATTGTAAGGAACTCATACTTGCATCTTTCTAGACTCTTTAGACCTAATAGAAGAAAGGACTTGGCATCTATGGAGAAGCAACATCTAGGGATTATCATTGAAATTAATTTTAAGATTTGTTTATTGATGTCATATATATATATATATATATACACACACACATACATACATACGTATCTCACATTCCTATTTTGGCAACCAAAACACATAAAATATATGTACCACAAGTAGAATAAGAAGAAAAATATAAGCTTAGAGAGGAAGGCAAGAATATTAAAGTCATAGTTGTTAATGCTTGCTATAAGATGATGATTTTCCCTTGAGTTAGATTTTTTTTATCATATTAAGAATGAACTTATTAAGTTTTTAAAAATTGAAATAAATATTGGATTTTGTCATGTATCATTTTGGCACATTTCAAAATGGTTACTTTTTTCCTCCTGCATTGGATGTAATGATTCTATTGACAGATAACCTAATATTAGGTAATCTTTACATTGTAAGAATTAACCTTATTTAATCACTGGAAGACAATTCCTTTAATAAAGTAAGACTTACTACTTAGTAATTTATCTTTGCTGTAACTGTCTTTATGAGTAAAATTGCCTTTAGTTTTTCTCCCTCTGTCCTCTCTTGGGCAGGTTTTGGTATGAGGGTTATGTGAGCTTCTTAAAATGAACTGGACAGCTTTCTATCTTTTCCCATGCTCTTGAACAGCTACATAGCTGGGGGATTATCTGTTCCTTGAAATTTTGAAAGACCTATCTGGACTTGGGTCCATTTCCAGAAGTAATTCAGCCAACTTAGTAATTTATATCCTCCTAGAAAAATCATCAATTTTTTTCAGGGTTTCAACTTTATTGATAGATGTGTTTTATATTAAAAAATAATCCTCTATGTATATAGCTTATTCCCTTTCTCATTTCTAATGTTGTTTATATTTTCTCTCTTATTTTCCTTGATGAAACTAGTTATAATACATTTATTTTATTAATTCCCCAGAAGTTACAAATATTACTGAAGTTATCAAATAGAAAATAGTATACTCTAATTCACCAATTTCTACTTTTATTTTTAACAGTACTTCTTACTTCTACTGTTTTATTATTATTTATAATTTATTTATTGGACTGTCTGTTTGTTTATTTTTACTTTTGGTTCATAATGAAAGCATTTAAAGCAATGAATTAGCCTCCTAGCACAGCTTTGACTACATTCTGTAGGTTTGTAAAAGTAGCATCTTCCTTGTGATTTTACTTATAATTAATAATTATTTAGTAATTATGTTTTTATTTTTACTTTAAACCAAGAGTTATTTAAGAAAGTTAGTTTTTTTAATATTTAAGTACTCAAGAATTTTTGCTTATATTTTGTCATCACTTTACAACTCCGTCATACTGTGGCCGGAGAATATGGCCTGTATTATTTCTGCTTTTAATTTTTTTCAGGATTCTTGGTGGATTGAAAGTTTACTTTTAAAATGAAGCTACTGATATTACAAATGATACACAAGAATTATTGTACAAAAACAAATGTTAAATATGCATGCAGTAGTCTTTAAAGCAAACAGCTTGTTCACTACAAGAAGTAGTAATTATTTATTAGCTTAATTTGAGGACTTCAATCTTAAAAATACTTACAGCCTCCTCAGCTTGTCTCTTATAAGATTTCACTTTTGCCTGAAGTTTATCTACCAAATCTTGAGGCCTGAGAATATTCTTTCTATCTTCTTCCGTCTGAAAGATTATAAAAAGTCCAGGACCTTAATTACTAAAGCACATGACTATTGCATCATTGCATATGAGTATTTCACATAAACTTCGACCAGTGCTTAGCCGCTAAAAACTACTGGCTGTACCTGGTAAGTGAGTTCCTTCACTCGCCTCTCATGTTTGCGCAGACCTTTGACAGCCTCAGCATTACGCTTTTGCTCACTCTCAACCTCTCCTTCCAGCTCCCGTACCTGCAAATAAGTAGGCTCTTAAGAACTTTGATCCAATAAGGCACTGAAAGCAGATGGAAATAGACAGATATTGGGAGACCCACCCTGGCCTCCAGTTTCTGGATCTGCTTCTTCCCACCCTTCAGGGCCAGCTGCTCAGCCTCATCCAGACGGAGCTGCAGATCCTTCACGGTCTGCTCCATGTTCTTCTTCATCCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCAGCCATCATGGCGGCCTAAATAGCAAATAAATCAAGAAAACCAAGAAAGTTATAGATGTCAGGAAATCTTACTGCTAAATCAGTGGACAAGTGTGCCTGCCACTCACATCAGTGATGGCCTTCTTGGCCTTTTCTTCTGCATTGCGGGCTTCCTGGAGAATGTCCTCCATCTCTCCTTGCATTTGGGAAATATCTGTCTCCAGCTTCTTCTTGGTGTTGATCAGGCTGGTGTTCTGTTTAAAAAGAATTTGTACATTTAAAAAATTGTGTTACCAAAGTATTTATTGGTAACCACTTCTTGAAAAAAATTCAGATAAAAATTTGCAAGTCAAAAAATGCCTTTTAATATTAAAGAATTAAAGGATTGTGTTATGTAATATGATTAAATAAAATATAAATGTTATAGAATATTCAGCATCTTCAAGTGTATAGGTCACAAGCAGACCAAGTAGCTCTATAATTTTATAATTATCATTTACCAATAGACCATTCACAGGGATAAAAGTATAATGGACTTTCTCATAACATTCCATTTCTCCAGAATGAAATGTGAATATTGATAATGAGGGCCAATAAAGATATTAACACAATAGAATACGGGGGCAGCCTTAGAATATTATATGAAGCAAATCAACAATAGTTTTTCAAAGCAAAACAGTGAAAGATTTCTCAGTAATGCAGAATTACTATTCTGTATTATTTGAAAAGAAAATTTGATAGACATATTAGGTCTAGCTGTCTTATGAAAACTCAGGCTTATCTATTCTGGGACATATAAAATTTACTAAGGAGAGTTCTTTGTGCTGAATCCCACCTGGGTGTGCAGTAGCTGAACACGCTCACTGGCATCCAGGAGCTCCTGTTCTGCGATTTTTCTGCTCCTCTCTGTCTGTTCCAGAGTGGCCCGCAGCTCCTCGATCTCAGCCTGCAGCAGGTTGGCTCTGCGCTCCACCATGGCCAGCTGTTCCTTCAGGTCCTCCTGGCTCCGGAGAGCATCATCCAGGTGGATCTGGGTATCCTGTGAAACAAACCATCATTGAGACATCATGTTCTCAGGGTTGCAGGCACCCCAATAGTCCTGGGACCATCTCTTGGACATATTTACCTTGAGGATGCCTTGGGTGTTCCTGTAGTTCCTCAGGGCCTCAGCAGCCATGCGGTTGGCATGGTTCAGCTGGATTTCCATTTCATTGAGGTCTCCCTCCATCTTCTTCTTGAGCCTAATGGCATCATTCCTACTCCTGATCTCAGCATCCAGCGTGCTCTGCATGGACTCCACGATTCTAATGTGGTTTCTCTTCAGCTGGTCAATTTCCTCATCTTTTTCAGCAATTTTCCTATCAACCTCAGACTTGACTTGGTTCAACTCAAGCTGGATGCGCAGGATCTTTCCCTCTTCATGTTCAAGAGATGCCTTAATGACAGCAAGAGGTGACATTAGCAAGGAACCAAAAGCTTTATGAAGTTTTTCTGCACAGCAATAATTTTGTGCTATGTGTCTTTTTATTCACTCTATGCAGATGTACCTAATTATTTTCCAGATTTTTTTA
|
Task1_train_23788
|
This mutation occurs in MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Myopathy, proximal, and ophthalmoplegia
|
TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAGCTTTGAAAAAGACCTGTGAATGGAAAGAGTTGCAAATCACAAGCTTTAATAAAGTTCAAAGGGACAGGAATAGCATCAGGTAGGATTTACAGAAAATTACCTTGGTGTGCCCAAATTTATACTGGGTGTGGTCAATGTCGATGGATGCAAGGAGCTTCTCAGAGGCCTTCTTGCTATCAATGAATTGCCCTTCAGGGATTGCACTTGCATTTAATACCTTGTATCTGTTGAAGTACATATAGCTTTTAACAACTAGTTTACTGATGACACAAATGCTAGCTAAACATTAAATGATTCATTTTTTAAAGCAGAGCTTTAAAAAAATATTATTCTTTGTTCACAAGGAGAACATTGTTTATTTGAATGGTCAACCCTTTGGCAACCAATTTTTATTCCATTTGCCTTTCCCTCGCAGTTGCAACTTTCCTTTCTGTCTCATCAGACCCTGTTCTTAGAAAAGGGTTCTGCCTTAAGAAAGGGACACATTATGGTGTGCCTAACCAATAAAATGTAATCTGTTATCTTTACTAGATGCATTTGCTTTTTAAGGCCCTGAATCCAAGAAAGCTACTTTTCATTGAAGAATTTGGTAGACAGTACACTTTAGGTATTCAGAACTATCCTAATCACCTAAAATCAAACTTAGACATGCTTTGGATCTTGAGCCCTGGAATCCTCTGTCAGTGCCACCTGACCCAGACCTGGGAGAGATCAGCTCCTAGCAGCTGCTACCCAGTCCTTCCCCACCTCTGCCTTTTCTTTGATTCTCAAGATGGGCTTATCTAGAGAGGAGAAAAGGGACCTGAGGAACAGTCATTGTGACATGTTCCCTCTGCCTCCAGGAAACCCTGGGAGTCTAATATGTGGGAGAAAAAGACGAACATAGATGATACCAAAGGAAATGACAGAAAATGAATAGCTATGTTTGTATGGAAGAGTTTCTAACTCAACCACTTAATAACTGTGACTTTGGGCAAGTACCTTAATTTCCCTGAGCCTCAGCTTATTCATCTATAAAGTGAAGTCTTAATAGTACCTACTTGCACTGTGTTTTTGCGAGGATTAAACAAGATAATCTGAACATATTAAGCACTCAAAAAGGTCGTTCTTAATTATTATTGGAGTTAACGTGTGCATCTATGAGCTAAGCTAAGTGCCTGATAAATCCAATGAAAATTCCACAAGGTGCTTAAAATTTTGTATATTTATATTTTAAAAGTATTTGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAAAACTTTTGGAGGCCAAGGCTGGCGGATGACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAGCATGGTGAAACCCCATCTGTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTCAAAACAAAAGTGTTCGAGACTTGAGACTTGTAATTTTTTTACTTCTTTTTGTGACAAAACTAACAAGTAGAGGCATATGTTTCACTAAATTGTTTTGCTTGCATTAAACTTGTTCATATTAAACTTCAGAATACACCATAATCAGGAGAAACTGACCTCTGTTTGAAGTCTGCATAAAGGATTCTGCTTGGAAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCGTTACACCTCAGCTGGTGGAGGACAAGCTCATGCTCCATGGCACCTAAAAATGCATATTTATTTCACTGCAGAGCTGTTGAAAAGGAGGTGTGGCAGTCATCCTTTGCACTTTCATTATGGAATTTCTTACCAGGAGTTTTTGTCTCATTGGGGATGATACACCTCACAAAGTGAGGATGGGTACTCCTGAGGTTGGTCATCAGCTTGTTCAAATTCTCCTGTAAAACCAGGAAAAATCCTGTCATTTTAGGCTCTAGACATGGATATGAGCAGTCATTGGTGTCTATAAAATCAATATCTATAGCTGAGTTGAATGACCAGTATGGACTGCATTCATATAAGGCAACACTTTGAATGCTTCTTCTGAGATGCTTTTTCCTCCTCAATAGATCTTTCTGCACTTGAGTTTCCGAGAGTTACACACAGAACAAGGAAAGCATCCTGGCATGTGCTTCTTTTCAGTTTATGCCAACACCATCCTTTCTACCCTGGTCCCTGGCCATACACATACATTTACAAGGCCATTGCCTTCCCATGCGAGATGATCGCTCTTTCTTCTACCAAATTCCATAGTTCTCCAATAAGGAAATGGAAGCCTGCACCACATTTGGACGTTTTCCTTATAATACAGCTCCTCTTTTCCAGCTCTATCAATTTTTAGGGGATAGAGATTATCTACAGGGGAGCAATCCTACCAATTATAATTGAAAATTGACTCGATTAAGAGCAAGGATACCATATTAGCTGCACTGCAGATTTGCTGCTAGAATTCATGAGTTCATTAGCCATACTGATGTCTTTTAGTCTCTCTGAGTTCATGTCATTGCTCTTTTTCATGGCTCAGCTAGATTATGAATGGCAGAGTATTATGGTCTATAAGATTTTCTATAAAATATTTCTCATTATTTGACTTAGCATGAAAAGTGAACTAATAATTTCTGAGTAATTTAAATCCCTTCTTTCCAAAGTTAGATCAACAGAGTCACTAGTTACTATCAGTCCTTTTCTAAACTACTCATGGAATGATCTTGTACTTTTAAAAGCAAATTTTATGCATTGGGTACAGTGTACACTGCTCTGGTGATGGGTGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATGCATGTAACCCAACACCACCTGTTCCCCAAAACCTATTGAAATAAAAAATAAATTTAAAAAAAGAAAAGACGAGGGGAATTTTGCCCAGCGAGATGTCAAAGCATATTACAAAGTAATTTTAATAAATGTAATGTGATATTAGTATATGAATAGATAAATATATCCTTAGAACAAAAATAGAAGTTCAGAAAAACAGACCCATGTAAAAAAAATCCCAAAGTAATTGGAGAATGTCAAAAACAATTTCTTCCTTACTCTGAAAAGGGCAGACACTGTCTGGAAAGAAGAGCCCTTCTTCTTACCACCTTTCTTGGCCCCTCCACCAGCTCCCTCTGAAGAAAAAGGAAGAAAAGAAATACTGTTTTGAATTGGCAGGGCTACTTCTTGCGTATTTGCTGATTTCTGTGTTCATCGAGTGGAGCCTTTTTTCTACCCAGCTGGCCTCTCTGATTGAGCCTGAATGAATCTTATTTTTCAACTAAGTTTGCAGCCACTTATCTGTGATTCTTTCTCCAGTGGGAAATGAGGCCAGGGATATTCACCTGACCGTATAGAGAGGGATTCCCTAATATTAGGACATGTGAGGAGCTAACTTCAAAAATCATCAATAGAAGCTAGTACTGAGAGGTGGAAGTTTGTCACTCTGTTGCCTAAGATTTATACCCTCAGATACTCTATATATCCTGCAGATGTGGAGGAAGAAGTAGGAGAGAATCGTAGAAGCTGAGGCTTTTCATTGGTTGAGAGCCTGATAATCCTCTCTGACTCTGCAATAGGGCTCCTGTCAGCAGTGGAGTGAGCCACAAATGTATAATTACAAGGCTGCCTATCTATTCAATACTTGGAGGAACCAGGGGCTTGGTCTGCAACCCTTCTGCCAGACCTAAGAGATCACTAGCTTCAATTTAAC
|
TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAGCTTTGAAAAAGACCTGTGAATGGAAAGAGTTGCAAATCACAAGCTTTAATAAAGTTCAAAGGGACAGGAATAGCATCAGGTAGGATTTACAGAAAATTACCTTGGTGTGCCCAAATTTATACTGGGTGTGGTCAATGTCGATGGATGCAAGGAGCTTCTCAGAGGCCTTCTTGCTATCAATGAATTGCCCTTCAGGGATTGCACTTGCATTTAATACCTTGTATCTGTTGAAGTACATATAGCTTTTAACAACTAGTTTACTGATGACACAAATGCTAGCTAAACATTAAATGATTCATTTTTTAAAGCAGAGCTTTAAAAAAATATTATTCTTTGTTCACAAGGAGAACATTGTTTATTTGAATGGTCAACCCTTTGGCAACCAATTTTTATTCCATTTGCCTTTCCCTCGCAGTTGCAACTTTCCTTTCTGTCTCATCAGACCCTGTTCTTAGAAAAGGGTTCTGCCTTAAGAAAGGGACACATTATGGTGTGCCTAACCAATAAAATGTAATCTGTTATCTTTACTAGATGCATTTGCTTTTTAAGGCCCTGAATCCAAGAAAGCTACTTTTCATTGAAGAATTTGGTAGACAGTACACTTTAGGTATTCAGAACTATCCTAATCACCTAAAATCAAACTTAGACATGCTTTGGATCTTGAGCCCTGGAATCCTCTGTCAGTGCCACCTGACCCAGACCTGGGAGAGATCAGCTCCTAGCAGCTGCTACCCAGTCCTTCCCCACCTCTGCCTTTTCTTTGATTCTCAAGATGGGCTTATCTAGAGAGGAGAAAAGGGACCTGAGGAACAGTCATTGTGACATGTTCCCTCTGCCTCCAGGAAACCCTGGGAGTCTAATATGTGGGAGAAAAAGACGAACATAGATGATACCAAAGGAAATGACAGAAAATGAATAGCTATGTTTGTATGGAAGAGTTTCTAACTCAACCACTTAATAACTGTGACTTTGGGCAAGTACCTTAATTTCCCTGAGCCTCAGCTTATTCATCTATAAAGTGAAGTCTTAATAGTACCTACTTGCACTGTGTTTTTGCGAGGATTAAACAAGATAATCTGAACATATTAAGCACTCAAAAAGGTCGTTCTTAATTATTATTGGAGTTAACGTGTGCATCTATGAGCTAAGCTAAGTGCCTGATAAATCCAATGAAAATTCCACAAGGTGCTTAAAATTTTGTATATTTATATTTTAAAAGTATTTGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAAAACTTTTGGAGGCCAAGGCTGGCGGATGACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAGCATGGTGAAACCCCATCTGTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTCAAAACAAAAGTGTTCGAGACTTGAGACTTGTAATTTTTTTACTTCTTTTTGTGACAAAACTAACAAGTAGAGGCATATGTTTCACTAAATTGTTTTGCTTGCATTAAACTTGTTCATATTAAACTTCAGAATACACCATAATCAGGAGAAACTGACCTCTGTTTGAAGTCTGCATAAAGGATTCTGCTTGGAAATCCTTTCCTACAGATGCGGATGCCTTTCAGCACACCGTTACACCTCAGCTGGTGGAGGACAAGCTCATGCTCCATGGCACCTAAAAATGCATATTTATTTCACTGCAGAGCTGTTGAAAAGGAGGTGTGGCAGTCATCCTTTGCACTTTCATTATGGAATTTCTTACCAGGAGTTTTTGTCTCATTGGGGATGATACACCTCACAAAGTGAGGATGGGTACTCCTGAGGTTGGTCATCAGCTTGTTCAAATTCTCCTGTAAAACCAGGAAAAATCCTGTCATTTTAGGCTCTAGACATGGATATGAGCAGTCATTGGTGTCTATAAAATCAATATCTATAGCTGAGTTGAATGACCAGTATGGACTGCATTCATATAAGGCAACACTTTGAATGCTTCTTCTGAGATGCTTTTTCCTCCTCAATAGATCTTTCTGCACTTGAGTTTCCGAGAGTTACACACAGAACAAGGAAAGCATCCTGGCATGTGCTTCTTTTCAGTTTATGCCAACACCATCCTTTCTACCCTGGTCCCTGGCCATACACATACATTTACAAGGCCATTGCCTTCCCATGCGAGATGATCGCTCTTTCTTCTACCAAATTCCATAGTTCTCCAATAAGGAAATGGAAGCCTGCACCACATTTGGACGTTTTCCTTATAATACAGCTCCTCTTTTCCAGCTCTATCAATTTTTAGGGGATAGAGATTATCTACAGGGGAGCAATCCTACCAATTATAATTGAAAATTGACTCGATTAAGAGCAAGGATACCATATTAGCTGCACTGCAGATTTGCTGCTAGAATTCATGAGTTCATTAGCCATACTGATGTCTTTTAGTCTCTCTGAGTTCATGTCATTGCTCTTTTTCATGGCTCAGCTAGATTATGAATGGCAGAGTATTATGGTCTATAAGATTTTCTATAAAATATTTCTCATTATTTGACTTAGCATGAAAAGTGAACTAATAATTTCTGAGTAATTTAAATCCCTTCTTTCCAAAGTTAGATCAACAGAGTCACTAGTTACTATCAGTCCTTTTCTAAACTACTCATGGAATGATCTTGTACTTTTAAAAGCAAATTTTATGCATTGGGTACAGTGTACACTGCTCTGGTGATGGGTGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATGCATGTAACCCAACACCACCTGTTCCCCAAAACCTATTGAAATAAAAAATAAATTTAAAAAAAGAAAAGACGAGGGGAATTTTGCCCAGCGAGATGTCAAAGCATATTACAAAGTAATTTTAATAAATGTAATGTGATATTAGTATATGAATAGATAAATATATCCTTAGAACAAAAATAGAAGTTCAGAAAAACAGACCCATGTAAAAAAAATCCCAAAGTAATTGGAGAATGTCAAAAACAATTTCTTCCTTACTCTGAAAAGGGCAGACACTGTCTGGAAAGAAGAGCCCTTCTTCTTACCACCTTTCTTGGCCCCTCCACCAGCTCCCTCTGAAGAAAAAGGAAGAAAAGAAATACTGTTTTGAATTGGCAGGGCTACTTCTTGCGTATTTGCTGATTTCTGTGTTCATCGAGTGGAGCCTTTTTTCTACCCAGCTGGCCTCTCTGATTGAGCCTGAATGAATCTTATTTTTCAACTAAGTTTGCAGCCACTTATCTGTGATTCTTTCTCCAGTGGGAAATGAGGCCAGGGATATTCACCTGACCGTATAGAGAGGGATTCCCTAATATTAGGACATGTGAGGAGCTAACTTCAAAAATCATCAATAGAAGCTAGTACTGAGAGGTGGAAGTTTGTCACTCTGTTGCCTAAGATTTATACCCTCAGATACTCTATATATCCTGCAGATGTGGAGGAAGAAGTAGGAGAGAATCGTAGAAGCTGAGGCTTTTCATTGGTTGAGAGCCTGATAATCCTCTCTGACTCTGCAATAGGGCTCCTGTCAGCAGTGGAGTGAGCCACAAATGTATAATTACAAGGCTGCCTATCTATTCAATACTTGGAGGAACCAGGGGCTTGGTCTGCAACCCTTCTGCCAGACCTAAGAGATCACTAGCTTCAATTTAAC
|
Task1_train_23789
|
Consider this mutation in LOC126862501, MYH2, MYHAS (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455| myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Myopathy, proximal, and ophthalmoplegia
|
GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCATAATCCCATCACTTTGAGAGGCCAAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAACACAAATATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTAGCTGTGAGCTGAGATTTCGCCATTGCACTCTGGCCTGGGTGACAAAGTGAGACTCCATCTCAACAAACAAACAAACAAACAAACAAAACTATTGTAATCCAAAGAGGATAATCACATAATGGGAAAAGTTGTATCACTATAGTGTTGATTATATACAATCCAGAATTGGAAATAATCTATCTGTAAAGAGGGTATGGTTAAGTAATTTGTGCTTATTTCTAGAATAGAACACTATGCAACCATTGGAAATAATGATGTGGAGCTATATTTAGTGACATGGAAAAAGCTATGATACATAATTGCTCAGTAAAAAAGTAGATTACAGGAGAGCATGTAACCATGATTTCAGTTATGAAAATTGTATGTATGTATCTATATGTAGAGATATGTATACAGAAAATGACTAGAGAGATATTCATCCAAGTGTTCATGGTGGTTATTTCATAGTAGTAGGAATTAGAGATGTTATTTTCAGTTTTCCTTTTGATTTCCTTTGAATTTTTCTAATGAGCACATATAAATTTTTACCAAACTCACAAAGCTATTTATAAAATAAAAAGGCACATAAACTTGACAAAATTCAGTCATAGAATACTAGGTTGGACTGTGCATTGATAGGTACTGATGCAGTAATTCTGGAAAAGAATTATGACATTTCTTACCAATAAGTTCTGGTTTCTTATTCGATGTAATCTGGTAAAAAATATGATAACTTCTCTCAGCCTTAAGCTGGAAAACAACTCTAGACTTCTCTAGCAGATCTGGAAGGAAACAAATAACACATAAGAAAATTGTAAAAATTCATGTGACATGCGAATTTGATTTTTGGTCAGTTTTTTAGGTCATATGAATCAGAAATGATTTTAAAGATATCTGAACACTTACATGTTTCAATATCAGCAGATGCCAGTTTTCCAGTAGTGCCAAAGTGGATTCTGATGAATTTACCCTTGAAATAAAAGCTAATATTACTACCTTTTTTTTATATAATATTAAATCTTTGAGAAATTCCAAACATTTGATGCTGGTACTTTAATATTAAATCAATTCAGAGAGTATTTGCATCAGGTAGAAAAAGGTGTATCTCCTATTTTATAAGTAGAAGAGTTTTATCTTTGATTTAAAAATTGTAAATATTTCTTAAGTATGTGAAGTAATGGATATGTTAATTAGCATGTTAATCATTCCATAATATACACATAACATATATCAAAACATCACATTGTATTTCGTAAGTACAATTATTATTTGTAAATTAAAAATAAAAATTTTAAAATTGTGAGTAAGTGTAGATCATGACAGATAAGAAAGAACTCAGGAAAAAGGCCATATATCCTTCAAGATGGGGCTTTGATCTATGTTATTACATGCTCAGAGGAAAAGGAAAGAACAATGATGTAATAGAATGGGAATGAAAAAGATTCAGAGAATGTAATTACAAACATCTCATAAATTTTGACCAGTGAACAGCATCTATTAGCGTGTCCAAGAGACTTACAAAGCGAGAGGAGTTGTCATTCCTCACGGTCTTGGCGTTGCCAAAGGCCTCCAGTAGGGGGTTGGCACTGATGATTTGATCTTCCAGAGTCCCCTGCAAAGGCAAGAGCAGTCCTTGCATCTGGGGCTTGGGAATTTCCTACCTGAGAGTCCCGACAGAGTCTGGATTCTGACTGTGACAATCAGACTCACCTGTATTTTGCCAGAAGTAATTTCTTCCTTCTTCTTCTCACCAGTAACTGCAATTGTTGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCTGCACCAGATTCTCCACTGTCAAATCAAAACTCAATCAGATGTGGTCTCAAACCTAGCAGCTATCACAGCCATGTAAAGAAAGCATAAAATCTACTTACGTGATCAGGATTGACTGATTCTCTCGGTCTACAAAAGAAATTATAGACATTTAATACTGTTTTCTTACATATTTGTAAATGATAAGTAAAGTAAAATGGAATGAACTTAGTATTATTCAGTCTGGACTTTGCAACCTTTAGGGCTTGGCAGGCTTTAGACCTACCACTTTCTCCCTCCCCAACTTTAGCACACATCCACCCATTTAAACAGAACACCACTACTTTTATTGGTTTTATATTCAAATCTTCCAAGAAATATTTCCTTCGAGGAAAAAAATTCTAAGATGAAGGAAAATGTTTGAATGCCACTCTATAAGTGATGACCACGTGGCTGTGTATTCCTGAAGCACCAGACTTTTTCTTTTTAATACTCTATCACTAAATAAACACCAAAAGTAGACTTGGCTCTTTGGTTAGGTTTAGTTGATGATTTAAGTTAGGGACATATATATTGTGGGTGCAAGGCGTAATGAAGAATGAGCATTAGAGATATTTTTAATGTGTGAAAAGGAGTAAGTACAGTAAAGGTGATAGTTTTAGAAATACGGCTTTGGTCATATTTTTAGGAAAAGGTAAAATTTTGTTTTGATGTTTTACTGTCTCTGAAGAGGAATTCTCTAAGCCCCTTCTCAAGGTGCCACAAGTAGTTTAGATTGGTCTAGCCAAGACAATATTGTAGGAAGCAGATTCAACATCTAACTGTTTTAATACCAAATACACCTTAAATCTGGAGCCTGTTCAGGTTGGTTCTGGGCAAAGGGCGATAGCATTGTGCCGTCCTTCATATAGAGAGACTGTTTAATCTGTCACAATTTAGGATGCTGAGGCTGAAACTACAGAGACAAGTTTTACTCTTCCATTTTTTGGCTCATAGTAACGGAGACACAGTTTGTATGTGTGATTGTGCGTGCATGAGTGTGTGTGTGTGTGTGTATATATACATACACAGAAATATTTGTATTTTTGCTCATATTTATTTGAGTTTCTGAGTCATTCAAAAGTATACTAACTAACCATGGCCAGCCTCTGTTGAACTTTTCAAAATTTAAGAGATCATTAGCAATTATGTAATATTACGCATTACAAATCAGCCTTTCTCCCCTTCCTGGACCTTCTCCTTCATAAATACACCAGCCTCAACTAAAAGGGACGATCTCAAGGAATGTGTTGAGATTGCCTCGAGTCTCTTTCTCCTATGGTTCTGCTCTAAAGGTTTACGCACTTGCAAAGCATTCGGCTCACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGCGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGGCTGTCACCACCTCGGGCTTATACACAGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGACCTGAATAGGTCTATGAGAAGGAAAAAGAATAAGTACCCAAAGACCTTTCCTGTTATTTGTGAAATTAACTTATTAATTGAATGTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTACCTCAGCTCACTGCAGCCCCAACCTCCCGGGCTCAAGCAATCCTCCCACCTCACCCTTCCAAGTAGCTGGTACTACAGGCATGCATCACCATGCCCAGCTAATTTTGTACGTGCTTTTTGTAGAGCTAAAGTCTCACTTTGTTGCCCAGGCTGGTCTGGAAATT
|
GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCATAATCCCATCACTTTGAGAGGCCAAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAACACAAATATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTAGCTGTGAGCTGAGATTTCGCCATTGCACTCTGGCCTGGGTGACAAAGTGAGACTCCATCTCAACAAACAAACAAACAAACAAACAAAACTATTGTAATCCAAAGAGGATAATCACATAATGGGAAAAGTTGTATCACTATAGTGTTGATTATATACAATCCAGAATTGGAAATAATCTATCTGTAAAGAGGGTATGGTTAAGTAATTTGTGCTTATTTCTAGAATAGAACACTATGCAACCATTGGAAATAATGATGTGGAGCTATATTTAGTGACATGGAAAAAGCTATGATACATAATTGCTCAGTAAAAAAGTAGATTACAGGAGAGCATGTAACCATGATTTCAGTTATGAAAATTGTATGTATGTATCTATATGTAGAGATATGTATACAGAAAATGACTAGAGAGATATTCATCCAAGTGTTCATGGTGGTTATTTCATAGTAGTAGGAATTAGAGATGTTATTTTCAGTTTTCCTTTTGATTTCCTTTGAATTTTTCTAATGAGCACATATAAATTTTTACCAAACTCACAAAGCTATTTATAAAATAAAAAGGCACATAAACTTGACAAAATTCAGTCATAGAATACTAGGTTGGACTGTGCATTGATAGGTACTGATGCAGTAATTCTGGAAAAGAATTATGACATTTCTTACCAATAAGTTCTGGTTTCTTATTCGATGTAATCTGGTAAAAAATATGATAACTTCTCTCAGCCTTAAGCTGGAAAACAACTCTAGACTTCTCTAGCAGATCTGGAAGGAAACAAATAACACATAAGAAAATTGTAAAAATTCATGTGACATGCGAATTTGATTTTTGGTCAGTTTTTTAGGTCATATGAATCAGAAATGATTTTAAAGATATCTGAACACTTACATGTTTCAATATCAGCAGATGCCAGTTTTCCAGTAGTGCCAAAGTGGATTCTGATGAATTTACCCTTGAAATAAAAGCTAATATTACTACCTTTTTTTTATATAATATTAAATCTTTGAGAAATTCCAAACATTTGATGCTGGTACTTTAATATTAAATCAATTCAGAGAGTATTTGCATCAGGTAGAAAAAGGTGTATCTCCTATTTTATAAGTAGAAGAGTTTTATCTTTGATTTAAAAATTGTAAATATTTCTTAAGTATGTGAAGTAATGGATATGTTAATTAGCATGTTAATCATTCCATAATATACACATAACATATATCAAAACATCACATTGTATTTCGTAAGTACAATTATTATTTGTAAATTAAAAATAAAAATTTTAAAATTGTGAGTAAGTGTAGATCATGACAGATAAGAAAGAACTCAGGAAAAAGGCCATATATCCTTCAAGATGGGGCTTTGATCTATGTTATTACATGCTCAGAGGAAAAGGAAAGAACAATGATGTAATAGAATGGGAATGAAAAAGATTCAGAGAATGTAATTACAAACATCTCATAAATTTTGACCAGTGAACAGCATCTATTAGCGTGTCCAAGAGACTTACAAAGCGAGAGGAGTTGTCATTCCTCACGGTCTTGGTGTTGCCAAAGGCCTCCAGTAGGGGGTTGGCACTGATGATTTGATCTTCCAGAGTCCCCTGCAAAGGCAAGAGCAGTCCTTGCATCTGGGGCTTGGGAATTTCCTACCTGAGAGTCCCGACAGAGTCTGGATTCTGACTGTGACAATCAGACTCACCTGTATTTTGCCAGAAGTAATTTCTTCCTTCTTCTTCTCACCAGTAACTGCAATTGTTGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCTGCACCAGATTCTCCACTGTCAAATCAAAACTCAATCAGATGTGGTCTCAAACCTAGCAGCTATCACAGCCATGTAAAGAAAGCATAAAATCTACTTACGTGATCAGGATTGACTGATTCTCTCGGTCTACAAAAGAAATTATAGACATTTAATACTGTTTTCTTACATATTTGTAAATGATAAGTAAAGTAAAATGGAATGAACTTAGTATTATTCAGTCTGGACTTTGCAACCTTTAGGGCTTGGCAGGCTTTAGACCTACCACTTTCTCCCTCCCCAACTTTAGCACACATCCACCCATTTAAACAGAACACCACTACTTTTATTGGTTTTATATTCAAATCTTCCAAGAAATATTTCCTTCGAGGAAAAAAATTCTAAGATGAAGGAAAATGTTTGAATGCCACTCTATAAGTGATGACCACGTGGCTGTGTATTCCTGAAGCACCAGACTTTTTCTTTTTAATACTCTATCACTAAATAAACACCAAAAGTAGACTTGGCTCTTTGGTTAGGTTTAGTTGATGATTTAAGTTAGGGACATATATATTGTGGGTGCAAGGCGTAATGAAGAATGAGCATTAGAGATATTTTTAATGTGTGAAAAGGAGTAAGTACAGTAAAGGTGATAGTTTTAGAAATACGGCTTTGGTCATATTTTTAGGAAAAGGTAAAATTTTGTTTTGATGTTTTACTGTCTCTGAAGAGGAATTCTCTAAGCCCCTTCTCAAGGTGCCACAAGTAGTTTAGATTGGTCTAGCCAAGACAATATTGTAGGAAGCAGATTCAACATCTAACTGTTTTAATACCAAATACACCTTAAATCTGGAGCCTGTTCAGGTTGGTTCTGGGCAAAGGGCGATAGCATTGTGCCGTCCTTCATATAGAGAGACTGTTTAATCTGTCACAATTTAGGATGCTGAGGCTGAAACTACAGAGACAAGTTTTACTCTTCCATTTTTTGGCTCATAGTAACGGAGACACAGTTTGTATGTGTGATTGTGCGTGCATGAGTGTGTGTGTGTGTGTGTATATATACATACACAGAAATATTTGTATTTTTGCTCATATTTATTTGAGTTTCTGAGTCATTCAAAAGTATACTAACTAACCATGGCCAGCCTCTGTTGAACTTTTCAAAATTTAAGAGATCATTAGCAATTATGTAATATTACGCATTACAAATCAGCCTTTCTCCCCTTCCTGGACCTTCTCCTTCATAAATACACCAGCCTCAACTAAAAGGGACGATCTCAAGGAATGTGTTGAGATTGCCTCGAGTCTCTTTCTCCTATGGTTCTGCTCTAAAGGTTTACGCACTTGCAAAGCATTCGGCTCACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGCGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGGCTGTCACCACCTCGGGCTTATACACAGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGACCTGAATAGGTCTATGAGAAGGAAAAAGAATAAGTACCCAAAGACCTTTCCTGTTATTTGTGAAATTAACTTATTAATTGAATGTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTACCTCAGCTCACTGCAGCCCCAACCTCCCGGGCTCAAGCAATCCTCCCACCTCACCCTTCCAAGTAGCTGGTACTACAGGCATGCATCACCATGCCCAGCTAATTTTGTACGTGCTTTTTGTAGAGCTAAAGTCTCACTTTGTTGCCCAGGCTGGTCTGGAAATT
|
Task1_train_23790
|
An alteration has been detected in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
|
GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGCATGAGCTACCACACCCGGCCTCCCTTATGTTTTTATTATACACCAGGACCTTTAAACACTGGCCATGTTTCTCTCTTTAGTCTCAAAAACTTGGACGCAGACAATGAATATCTGAGTTAAGAAGTATCAAGGCCCTGGCTCTTAGTTTCTAGTCTCATTTCTGCCCATCAGAGTCTGTCTGATGCAAGTTTATATTAATTTTGAAAGAGTTTGAATGAGATGATATTTTGAGCCCCTTCTCATTCTGGTCTACTCCTCTTTCTCTCTTATTCTTACTGAACTCTCAATGTTCTCTCCCTTCAGGCTATTTCAAATGGCTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGT
|
GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGCATGAGCTACCACACCCGGCCTCCCTTATGTTTTTATTATACACCAGGACCTTTAAACACTGGCCATGTTTCTCTCTTTAGTCTCAAAAACTTGGACGCAGACAATGAATATCTGAGTTAAGAAGTATCAAGGCCCTGGCTCTTAGTTTCTAGTCTCATTTCTGCCCATCAGAGTCTGTCTGATGCAAGTTTATATTAATTTTGAAAGAGTTTGAATGAGATGATATTTTGAGCCCCTTCTCATTCTGGTCTACTCCTCTTTCTCTCTTATTCTTACTGAACTCTCAATGTTCTCTCCCTTCAGGCTATTTCAAATGGCTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTGGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGT
|
Task1_train_23791
|
Located on Chromosome 17, this mutation impacts MYH3 (myosin heavy chain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B
|
TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAAC
|
TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGGAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAAC
|
Task1_train_23792
|
This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Freeman-Sheldon syndrome
|
CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGC
|
CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGTCGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGC
|
Task1_train_23793
|
This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B
|
CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTC
|
CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCGTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTC
|
Task1_train_23794
|
A genomic change on Chromosome 17 affects MYH3 (myosin heavy chain 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B
|
CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCT
|
CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTTGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCT
|
Task1_train_23795
|
This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Freeman-Sheldon syndrome
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
Task1_train_23796
|
Here is a genetic alteration in MYH3 (myosin heavy chain 3) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
Task1_train_23797
|
This mutation occurs in MYH3 (myosin heavy chain 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Arthrogryposis, distal, type 2B3
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
Task1_train_23798
|
This sequence variant lies in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
Task1_train_23799
|
This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Freeman-Sheldon syndrome
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.