Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
 Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_7000
A variant affecting Chromosome 3, within the gene USP19 (ubiquitin specific peptidase 19), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Epileptic encephalopathy
TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCA
TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTAAATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCA
Task1_train_7001
Here’s a variant in USP19 (ubiquitin specific peptidase 19) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Epileptic encephalopathy
GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCAAGAGATCATGAGGGTCTTCACAAGCTCCTGATGGTGATAAGCAGGTAACAGAGACCCAGCCTAATGAAACTGCTTCAGATGGGAGCCA
GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCATCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCAAGAGATCATGAGGGTCTTCACAAGCTCCTGATGGTGATAAGCAGGTAACAGAGACCCAGCCTAATGAAACTGCTTCAGATGGGAGCCA
Task1_train_7002
A variant was discovered on Chromosome 3, affecting LAMB2 (laminin subunit beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; LAMB2-related infantile-onset nephrotic syndrome
GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGC
GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCGGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGC
Task1_train_7003
This variant affects gene LAMB2 (laminin subunit beta 2) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Pierson syndrome
AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCTGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
Task1_train_7004
A variant on Chromosome 3 in gene LAMB2 (laminin subunit beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; LAMB2-related infantile-onset nephrotic syndrome
AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCTGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
Task1_train_7005
A variant on Chromosome 3 in gene RHOA (ras homolog family member A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAGCAACCCCAGTTATCATCATTAAGGTAGGGACAACCATAACAACACAATCACTCTAACACTAACTATCCAGGCAACCCGAGGCCACAAGCAGACCCTCAAAGGCTGTTTGTGGTAATGACGACAACATCCTTGACCCACCTGCTGCCCTGTCATGACAGGGAGGGCTGCAGCACAAGTTTATTAATAGATACCTCATCATCTTCAGCACAAACCTAAAGCAAGTTTTTTCAAGCCTGGTTTCACAGAATGTCAGGTTAGCATTCTTCAGTCTTTTTCTAAAGAATACTGACTTCTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGATCATCCTGGCTAACGTGGTGAAATCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGCCACCTGTAGTCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATGGCATCAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCAAGCTGCTGCAATCCAGCCTGGGAGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATACTGACTTACTGACTTCTGAATTATGTGGCTGTGTTTAGGCTAATGAAATGATCACATTCAAGCTTCTATCAGCTAAGACACTTCAGAAAAAGGCTAAGACAGGGCAACCAAAAAAAAGAAAGTCTTTCCCCAAAAGAGATGGCTTTACATTTGGAACTCATCTAGTTTGCTCATCTTTTTTTTTGGGAGATGGAGTCTGCAGTACAGTGGCATGATCTTGGCTCACTGCAACTTCTGCTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCCCTGGAATAGCTGGGATTACAAGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGGGTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCGCCGCACCAGCCTTAGTTTACTCATCTTTGTATCTGGAATTCATCTAGTTTACAAGGCAGTTAGATTTTTAAATAACATTTAATATTATTTAGTAATAATAATAATAATTATTATTTTTGAGATAGAGTCTTGCTCTGTTGCTCAGTCTGGAATGCAGTGCCATAATCTCGGCTCACTGCAATCTCCACCTACCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTTTGTACTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTCAGGTGATCCACCCGTCTGGACCTCCCAAAGCGCAGGGATTATAGGTGTCAGGCACCGTGCCCTGCCTAGGTGGATACATTTTAAATACAGTACCCATGGGAGACCTAGGCTGAAAGGGACCCAAGGCCCACGCTCTACAATCCCAAACTCCAGGACTCCGGCCACTGACGATGATTGCTTCTCTGAAGTTCATGTCTGCTTTTCAGCCACTTGATGCCCAGAAACCAGATGCCAACTAGCTACACAGGCAGTGACAAATATCAGGGTGCAGGGCCACTCACCTAAACTATCAGGGCTGTCGATGGAAAAACACATCAGTATAACATCGGTATCTGGGTAGGAGAGGGGCCTCAGGCGATCATAATCTTCCTGCCCAGCTGTGTCCCACAAAGCCAACTCTACCTGTAATGGGAAAAACAACCACAAGAGTGCAAGGTTAATCCCCCCACCCACTTTTAGAAAAAGTGACACTTACCATAGTACATTGAAATGGCAGACCATTGAAATGGCAGACGGTCTAAAACAGTAAAACACAGGAGTATTTACATTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTCCCTGCAAGCTCCGTCTCCCGGGTTCACACCATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGTTGGGATTGCAGGCGTGACCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGACGGAGTCTTACTCTGTTGCTCAGACTGGAGTTCAGTGGCAAGATCTTGGCTCACTGCAAGCTCTGCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCTTGGCTAATTTTTCGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCGAGTATTCACTTTTATGAGCATCAAGCTCAAATGAGAGTATATTTAAATTATTTTAGGTTGAAATTTCTCAAAATTGAAAATCTGAGAACCCACCTCTACAAAAACACCTTAAAAATTAGCTGAGTGTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTGACTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCCCTACTAAAATACGAAAGAAATTAGCCAGGCACGGCAGCGTGCGCCTGTAGTCCCAGCTACTGGAGAGGCTAAGGCAGGTGAATTGCTTGAACTCGAGAGGCAAAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCACTCCAGCATGGGCGACAAAGCGAGCCTCCATCTCTAAAAAAAAAAAAAATAAATAAAATAAAACTTAGCTGAGTGTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAAGTCGGAAGTTCGAGACTAGCCTGACAAATGTGGAGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGCGTGGTGAAGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGTGGAGGTTGCAATGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCCAACAAGAGCGAAACTCCATTTAAAAAAAAAAAAAAATTAGCTGACTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGTGGGAGGACTGCTTGAGCCCGGGAGGCGGAGGTTGCAGTAAGCAGAGATTGTGCCACTGCACTGCAGCCTAGGCAGTGAGACCTTGACTCAATTAGGAAAAAAACAAAAAAACAAAACAGATACTAGAACTGAACCAAGTGGCATAATTCAAAATGTCAAGTCAAAAATAACTCTGTAGCTTATAAAAGTGTTTAATTATAAATAACATTCTACTAGGAAAGAAAGCAGACAGGAGGGAAGAAATCAAATTTTAAATAACATCCTACCAGGCATACAGGCGAGAGAGGAAGATACAAGACTAAGTAAATTTTCTGCTATAATGTGGAAACCATGGAAACAAATCTGTATTTTGAGTTGGTAGGTAGGAAAAGACACCATGCTGGCTGTTA
TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAGCAACCCCAGTTATCATCATTAAGGTAGGGACAACCATAACAACACAATCACTCTAACACTAACTATCCAGGCAACCCGAGGCCACAAGCAGACCCTCAAAGGCTGTTTGTGGTAATGACGACAACATCCTTGACCCACCTGCTGCCCTGTCATGACAGGGAGGGCTGCAGCACAAGTTTATTAATAGATACCTCATCATCTTCAGCACAAACCTAAAGCAAGTTTTTTCAAGCCTGGTTTCACAGAATGTCAGGTTAGCATTCTTCAGTCTTTTTCTAAAGAATACTGACTTCTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGATCATCCTGGCTAACGTGGTGAAATCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGCCACCTGTAGTCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATGGCATCAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCAAGCTGCTGCAATCCAGCCTGGGAGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATACTGACTTACTGACTTCTGAATTATGTGGCTGTGTTTAGGCTAATGAAATGATCACATTCAAGCTTCTATCAGCTAAGACACTTCAGAAAAAGGCTAAGACAGGGCAACCAAAAAAAAGAAAGTCTTTCCCCAAAAGAGATGGCTTTACATTTGGAACTCATCTAGTTTGCTCATCTTTTTTTTTGGGAGATGGAGTCTGCAGTACAGTGGCATGATCTTGGCTCACTGCAACTTCTGCTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCCCTGGAATAGCTGGGATTACAAGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGGGTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCGCCGCACCAGCCTTAGTTTACTCATCTTTGTATCTGGAATTCATCTAGTTTACAAGGCAGTTAGATTTTTAAATAACATTTAATATTATTTAGTAATAATAATAATAATTATTATTTTTGAGATAGAGTCTTGCTCTGTTGCTCAGTCTGGAATGCAGTGCCATAATCTCGGCTCACTGCAATCTCCACCTACCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTTTGTACTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTCAGGTGATCCACCCGTCTGGACCTCCCAAAGCGCAGGGATTATAGGTGTCAGGCACCGTGCCCTGCCTAGGTGGATACATTTTAAATACAGTACCCATGGGAGACCTAGGCTGAAAGGGACCCAAGGCCCACGCTCTACAATCCCAAACTCCAGGACTCCGGCCACTGACGATGATTGCTTCTCTGAAGTTCATGTCTGCTTTTCAGCCACTTGATGCCCAGAAACCAGATGCCAACTAGCTACACAGGCAGTGACAAATATCAGGGTGCAGGGCCACTCACCTAAACTATCAGGGCTGTCGATGGAAAAACACATCAGTATAACATCGGTATCTGGGTAGGAGAGGGACCTCAGGCGATCATAATCTTCCTGCCCAGCTGTGTCCCACAAAGCCAACTCTACCTGTAATGGGAAAAACAACCACAAGAGTGCAAGGTTAATCCCCCCACCCACTTTTAGAAAAAGTGACACTTACCATAGTACATTGAAATGGCAGACCATTGAAATGGCAGACGGTCTAAAACAGTAAAACACAGGAGTATTTACATTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTCCCTGCAAGCTCCGTCTCCCGGGTTCACACCATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGTTGGGATTGCAGGCGTGACCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGACGGAGTCTTACTCTGTTGCTCAGACTGGAGTTCAGTGGCAAGATCTTGGCTCACTGCAAGCTCTGCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCTTGGCTAATTTTTCGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCGAGTATTCACTTTTATGAGCATCAAGCTCAAATGAGAGTATATTTAAATTATTTTAGGTTGAAATTTCTCAAAATTGAAAATCTGAGAACCCACCTCTACAAAAACACCTTAAAAATTAGCTGAGTGTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTGACTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCCCTACTAAAATACGAAAGAAATTAGCCAGGCACGGCAGCGTGCGCCTGTAGTCCCAGCTACTGGAGAGGCTAAGGCAGGTGAATTGCTTGAACTCGAGAGGCAAAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCACTCCAGCATGGGCGACAAAGCGAGCCTCCATCTCTAAAAAAAAAAAAAATAAATAAAATAAAACTTAGCTGAGTGTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAAGTCGGAAGTTCGAGACTAGCCTGACAAATGTGGAGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGCGTGGTGAAGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGTGGAGGTTGCAATGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCCAACAAGAGCGAAACTCCATTTAAAAAAAAAAAAAAATTAGCTGACTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGTGGGAGGACTGCTTGAGCCCGGGAGGCGGAGGTTGCAGTAAGCAGAGATTGTGCCACTGCACTGCAGCCTAGGCAGTGAGACCTTGACTCAATTAGGAAAAAAACAAAAAAACAAAACAGATACTAGAACTGAACCAAGTGGCATAATTCAAAATGTCAAGTCAAAAATAACTCTGTAGCTTATAAAAGTGTTTAATTATAAATAACATTCTACTAGGAAAGAAAGCAGACAGGAGGGAAGAAATCAAATTTTAAATAACATCCTACCAGGCATACAGGCGAGAGAGGAAGATACAAGACTAAGTAAATTTTCTGCTATAATGTGGAAACCATGGAAACAAATCTGTATTTTGAGTTGGTAGGTAGGAAAAGACACCATGCTGGCTGTTA
Task1_train_7006
A genetic alteration is present in RHOA (ras homolog family member A) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; neuro-ectodermal phenotype
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
Task1_train_7007
Gene RHOA (ras homolog family member A), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
Task1_train_7008
A variant affecting Chromosome 3, within the gene RHOA (ras homolog family member A), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hemihypertrophy
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
Task1_train_7009
This alteration occurs within gene AMT (aminomethyltransferase) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
Pathogenic; Inborn genetic diseases
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
Task1_train_7010
Gene AMT (aminomethyltransferase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Glycine encephalopathy
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
Task1_train_7011
The variant affects gene AMT (aminomethyltransferase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Glycine encephalopathy 1
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
Task1_train_7012
A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Glycine encephalopathy 2
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
Task1_train_7013
The gene AMT (aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Glycine encephalopathy
AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAG
AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGATGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAG
Task1_train_7014
This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Glycine encephalopathy
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
Task1_train_7015
Chromosome 3 houses a mutation in gene AMT (aminomethyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Glycine encephalopathy 1
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
Task1_train_7016
Given this variant in gene AMT (aminomethyltransferase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Glycine encephalopathy 2
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
Task1_train_7017
This genomic variant is located on Chromosome 3, within the AMT (aminomethyltransferase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Glycine encephalopathy
GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCC
GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATACGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCC
Task1_train_7018
This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Glycine encephalopathy
CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGCGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
Task1_train_7019
A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Glycine encephalopathy 1
CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGCGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
Task1_train_7020
This variant affects gene AMT, NICN1 (aminomethyltransferase| nicolin 1, tubulin polyglutamylase complex subunit) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Glycine encephalopathy
GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCGTCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
Task1_train_7021
The gene NICN1, AMT (nicolin 1, tubulin polyglutamylase complex subunit| aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Glycine encephalopathy
GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCTTCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
Task1_train_7022
Here is a genetic alteration in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
Task1_train_7023
This genomic variant is located on Chromosome 3, within the GMPPB (GDP-mannose pyrophosphorylase B) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
Task1_train_7024
The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
Task1_train_7025
This variant lies on Chromosome 3 and affects the gene GMPPB (GDP-mannose pyrophosphorylase B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
Task1_train_7026
Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
Task1_train_7027
Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
Task1_train_7028
A sequence alteration has been identified in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Muscular dystrophy
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
Task1_train_7029
Consider a variant on Chromosome 3 in gene GMPPB (GDP-mannose pyrophosphorylase B). Determine its clinical classification and disease relevance.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCT
CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCACGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCT
Task1_train_7030
Assess the clinical impact of this variant on gene GMPPB (GDP-mannose pyrophosphorylase B), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
Task1_train_7031
A mutation on Chromosome 3 affecting GMPPB (GDP-mannose pyrophosphorylase B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
Task1_train_7032
The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
Task1_train_7033
A mutation in GMPPB (GDP-mannose pyrophosphorylase B), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
Task1_train_7034
A variant affecting Chromosome 3, within the gene GMPPB (GDP-mannose pyrophosphorylase B), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTCCTGGCCATCTGTTAGAAGCAGCAGATCTGTG
GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGAGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTCCTGGCCATCTGTTAGAAGCAGCAGATCTGTG
Task1_train_7035
Located on Chromosome 3, this mutation impacts TRAIP (TRAF interacting protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Seckel syndrome 9
ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTTAATCAGTAATTGCAACAATTTTAAGTAGACTAAATGGTCCAGTTAAATACAAAGATTATCAGACTGGATTTTTAAAAGTCCAACTAAATGTTGTTTTCCAAGGCTGGGTGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGATTACTTGAGTCCAGGGGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATAGTCAAGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGATGGGAGAATCACCTTAGCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGTGTAACAGAGTGAGACCCTGTCTCAAAATAAAATAAAATAAAGATCTTTGCAGTAAGCTAAAGTACTTTTTAATATACAAAAAAAGAAATAAATGCTGTTTCAAGGGATACATGTAAAACACAAGGACACAGAAAAGTTTAAAGTAAAAGGATAGGCCCTAGCACTTTGAGAGGCCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTATGAAAAACACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATGTCAGCTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTACACGACAGGAGCGAGACTCCATCTCAAAAATAAAATAAAATAAAAATAAATAAATAAAGTAAAAGGATAGAAGAAAATAGAGTAGGCAAACAGAAAATAGAGTACGCTTAGAGGCGAGCTTAATTTCTAGTCTAACCAAACAGCAGTGGCTCCCTCAGCATGGGGCTCAGGCTGTCAGCAACACAGGCCTAAACAAAGCTTTGCAAGTAAGCCAGCAGCCATCAGTGTCATGCCTGCCTTTCTGCTTCCTAGGGCCTTTAGCCCCACAAGACCCTGTGATTATTATCACCCACCATTCCCAGGGGTAACGCTGCCTTATCTCTTTTGCTAGGAGGTCCAAACCGGCCTGTCCACATCTGCTAGGGGAATCTTTCCCCACTAGCTGTACACTCAACAGAATGGCCCTACACGGTCAGCAGGACCCCTGGATAGGGGAGCATCTCCTTGCCTTCCCCATGTTAAACGGGTTTGCTGACATGGCGAATACATTGGGGTGTCTGGACAGTGAGATGACTCTGGGTAGAATAATTCCAAACCATCAAGTAAGGCACAGCAAACTCTCTTGGGTAGCCAGAAGCCTAGCAGGTTTCTATCTGGAAGAAATAAAAGGACTTGTTGATGTGGTGAAAGCTCACCCTTGCCCAGGCTAACGGTTTTGAAATCACATCTGTTTGTATAGGTGATCAAGGAAGCATCTATCTTCACTGAGCCATCTTAGTCCCCCTCAGGCTTAGCTCAGCTATCACCTCTACCAGAAAGCCTGTCCTGACCCACTTCTGCCCAGGTTGGGAAGCTCCCGTGGGGCCTCGTCTAGGAGGAAGGTTCTCATCACTTGTCTGGATTCCGGGGTTGGACCGCCTGGAGGCCCAACACCTCAAGGCCCTGAAGCGGTACCCGGGCAAACACCGGGCCCCAACACTGCAGTCACTCACCACTGCAAGTGGAAGGTGTGGCCGCAGTGGATGGCGGCCACGTCGCGGGAGTGATCGAAGAAGTCGGAGCAGATAGTGCACAGAGCACGGATAGGCATGATGGCTGGACTCAAGGGGCCCAGGCAGCCAAAGAAACTGCTACAGGTCCGGCTTCGTAGACGCGCCCCCGCGCCTCCGCTTGCTTCAAATTTGGCTCCGCAGCACGACTTCCTGGAGCGGGCCGGAAGTGACAACACAAAACTTTGGGCGGAGCGTGAATACTTCGCCTGGATTGGACAAATTCTCGGATGGGCGGAACTATGGGCGGGGCTTAGCGGCCCCGAGGCCGTAGAGAATCCTGGGCGGAGCGCGGTCGCTCTCAGGCGTCCTCTGGGGAGACTCGACCTGCCACTTGAGAGCGCAGCATTATATCAAGGCGGGGAGCAGCGAGGCTGCCAGCTGGACCCTTTTCCAGGGCAAGGCAGCGCATTGTGGTCCCATGCCAGAGCTGGCGCGAGGCAGGCTGGGCCAAGGCAGAGAAAACCGCAGCCGCAAGGGAATAGAACAATGGTCCCGATGGGTCCCTTGGGCTCTGGACAGTGATGGACCATGCGCTATGGTCTGTAGTTCCCATAGACCACAATACCCTACCCTCTCAGTCCTCAGTTCCGGGCGATTCTAGAAAGATGGACACATAGGCCCCAGTCCCTCAGGTCACCCCAGGCCAACCTTGGCTTCATCCAAGTAAGATATGACTATCCTTGAGTTTGGAGACACTAGGGCCAGTACCCTGACTTTAGCTCTTAGCTCTCAGGAGGATCAGTTATGCTTGAGACTGTAGTAGGGTTGGAATTTTGGAGGCCCAGATGCTTCAAAGACTAGAGACTAACAAATCCTTTTTATTATTCCCACATCAGAGAAGTTATCTTTGAGGAGGTTATCTTTGAGGTCCTCCCAGAGAGCAGCATCCCTGGTGAGTTCACCCAGGCCCACCTGGGCTGGAGTAAGTCAACTTTTGGGTTTTTAGGCTTAGTATCTGTGGCAGTGTTACTCCCTCTACCCAGAAGAAACCCTGTGCATAGTCCCATAATATAAAGCTGATCTGCTCCAGCTGAAATAGACCCAGAGTGAGATTTCATTTGGGGCATAGGTGGAAAGCACAGGTGTTCACAGAAAGAAGGAATCAACACAGAGCAGCATAGAATCTTTGTGCATTGCTCACCCTACACCCTCTCCCTAGCTCAGGGAAGCTATCTTTGGCTATGAGCAGGGTCTGTCCTTGCGGTGGCTGGCCCAGGTAGATTCCAGCTCTATGCCTAAATCAAGAGTAAGGCTCCTCGGTCAACAGGAGTCAAAAACAGCAGCCCTTACTTGAGCTCTCAGCCCAGGGAGTATTCCTTGGTCCAAATGCAGCCCAAGACCCACTACTCACATGGATTTCTAGAGTTCAGAGGACCCCCACCACCACCACCATTGAGGAATACACTGTGGTGAGGATGATCTTCACCCTCAGCCCAAGAAATCCACAGGGCACTGTTCACTACTACTCCCAGCCACTACTTGTGAACCTGCTCCCAGCCTCTCCCTTCCCCACTGCCTTCCAGGGGCTCCTCCCCAGTAGGACAGAGGAAGCAAAGGCGAGAGGGTGGCCAGAGGCTTTGCAGGGTGATGTTTATTTGCCAGGTTCAGTAGGCACACAGTTAACCCACCGACCTTCACACACCAGAGCAGACCCACAGGCATGCAGGGAGAAGGGCAGGACCACCACGGAGTGCCGAGCAAGGGCGAGGACCAATGTGGCTGCCTATCCAGGCTGTGGTAGGGTCTGACAAAGGGCACCTGTCAGGAGCCTCCCTCAGGAAACTGGGGAGTTTAACCCTACTTCCTCATCCCAGAAAAAGCAACTCAATGTGGCTCTGAGGCACCTGGGCCTCTGATAGAAGTGAGCTGTAGAAAGAGGGAGTTCCTCTTCATTTCATTGTTGAACTGAGCAGAAAATCTGCCCCTGTAAAGGGCAAACCTCCAAATCAGATTATGAGTTATTGCCATGCAGCAAGCCCCCTAGGGTGGAGAGGACTTGTGGGCTGAGATTGTAGGAGGTGGGCATCTAGGAAG
ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTTAATCAGTAATTGCAACAATTTTAAGTAGACTAAATGGTCCAGTTAAATACAAAGATTATCAGACTGGATTTTTAAAAGTCCAACTAAATGTTGTTTTCCAAGGCTGGGTGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGATTACTTGAGTCCAGGGGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATAGTCAAGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGATGGGAGAATCACCTTAGCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGTGTAACAGAGTGAGACCCTGTCTCAAAATAAAATAAAATAAAGATCTTTGCAGTAAGCTAAAGTACTTTTTAATATACAAAAAAAGAAATAAATGCTGTTTCAAGGGATACATGTAAAACACAAGGACACAGAAAAGTTTAAAGTAAAAGGATAGGCCCTAGCACTTTGAGAGGCCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTATGAAAAACACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATGTCAGCTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTACACGACAGGAGCGAGACTCCATCTCAAAAATAAAATAAAATAAAAATAAATAAATAAAGTAAAAGGATAGAAGAAAATAGAGTAGGCAAACAGAAAATAGAGTACGCTTAGAGGCGAGCTTAATTTCTAGTCTAACCAAACAGCAGTGGCTCCCTCAGCATGGGGCTCAGGCTGTCAGCAACACAGGCCTAAACAAAGCTTTGCAAGTAAGCCAGCAGCCATCAGTGTCATGCCTGCCTTTCTGCTTCCTAGGGCCTTTAGCCCCACAAGACCCTGTGATTATTATCACCCACCATTCCCAGGGGTAACGCTGCCTTATCTCTTTTGCTAGGAGGTCCAAACCGGCCTGTCCACATCTGCTAGGGGAATCTTTCCCCACTAGCTGTACACTCAACAGAATGGCCCTACACGGTCAGCAGGACCCCTGGATAGGGGAGCATCTCCTTGCCTTCCCCATGTTAAACGGGTTTGCTGACATGGCGAATACATTGGGGTGTCTGGACAGTGAGATGACTCTGGGTAGAATAATTCCAAACCATCAAGTAAGGCACAGCAAACTCTCTTGGGTAGCCAGAAGCCTAGCAGGTTTCTATCTGGAAGAAATAAAAGGACTTGTTGATGTGGTGAAAGCTCACCCTTGCCCAGGCTAACGGTTTTGAAATCACATCTGTTTGTATAGGTGATCAAGGAAGCATCTATCTTCACTGAGCCATCTTAGTCCCCCTCAGGCTTAGCTCAGCTATCACCTCTACCAGAAAGCCTGTCCTGACCCACTTCTGCCCAGGTTGGGAAGCTCCCGTGGGGCCTCGTCTAGGAGGAAGGTTCTCATCACTTGTCTGGATTCCGGGGTTGGACCGCCTGGAGGCCCAACACCTCAAGGCCCTGAAGCGGTACCCGGGCAAACACCGGGCCCCAACACTGCAGTCACTCACCACTGCAAGTGGAAGGTGTGGCCGCAGTGGATGGCGGCCACGTCGCAGGAGTGATCGAAGAAGTCGGAGCAGATAGTGCACAGAGCACGGATAGGCATGATGGCTGGACTCAAGGGGCCCAGGCAGCCAAAGAAACTGCTACAGGTCCGGCTTCGTAGACGCGCCCCCGCGCCTCCGCTTGCTTCAAATTTGGCTCCGCAGCACGACTTCCTGGAGCGGGCCGGAAGTGACAACACAAAACTTTGGGCGGAGCGTGAATACTTCGCCTGGATTGGACAAATTCTCGGATGGGCGGAACTATGGGCGGGGCTTAGCGGCCCCGAGGCCGTAGAGAATCCTGGGCGGAGCGCGGTCGCTCTCAGGCGTCCTCTGGGGAGACTCGACCTGCCACTTGAGAGCGCAGCATTATATCAAGGCGGGGAGCAGCGAGGCTGCCAGCTGGACCCTTTTCCAGGGCAAGGCAGCGCATTGTGGTCCCATGCCAGAGCTGGCGCGAGGCAGGCTGGGCCAAGGCAGAGAAAACCGCAGCCGCAAGGGAATAGAACAATGGTCCCGATGGGTCCCTTGGGCTCTGGACAGTGATGGACCATGCGCTATGGTCTGTAGTTCCCATAGACCACAATACCCTACCCTCTCAGTCCTCAGTTCCGGGCGATTCTAGAAAGATGGACACATAGGCCCCAGTCCCTCAGGTCACCCCAGGCCAACCTTGGCTTCATCCAAGTAAGATATGACTATCCTTGAGTTTGGAGACACTAGGGCCAGTACCCTGACTTTAGCTCTTAGCTCTCAGGAGGATCAGTTATGCTTGAGACTGTAGTAGGGTTGGAATTTTGGAGGCCCAGATGCTTCAAAGACTAGAGACTAACAAATCCTTTTTATTATTCCCACATCAGAGAAGTTATCTTTGAGGAGGTTATCTTTGAGGTCCTCCCAGAGAGCAGCATCCCTGGTGAGTTCACCCAGGCCCACCTGGGCTGGAGTAAGTCAACTTTTGGGTTTTTAGGCTTAGTATCTGTGGCAGTGTTACTCCCTCTACCCAGAAGAAACCCTGTGCATAGTCCCATAATATAAAGCTGATCTGCTCCAGCTGAAATAGACCCAGAGTGAGATTTCATTTGGGGCATAGGTGGAAAGCACAGGTGTTCACAGAAAGAAGGAATCAACACAGAGCAGCATAGAATCTTTGTGCATTGCTCACCCTACACCCTCTCCCTAGCTCAGGGAAGCTATCTTTGGCTATGAGCAGGGTCTGTCCTTGCGGTGGCTGGCCCAGGTAGATTCCAGCTCTATGCCTAAATCAAGAGTAAGGCTCCTCGGTCAACAGGAGTCAAAAACAGCAGCCCTTACTTGAGCTCTCAGCCCAGGGAGTATTCCTTGGTCCAAATGCAGCCCAAGACCCACTACTCACATGGATTTCTAGAGTTCAGAGGACCCCCACCACCACCACCATTGAGGAATACACTGTGGTGAGGATGATCTTCACCCTCAGCCCAAGAAATCCACAGGGCACTGTTCACTACTACTCCCAGCCACTACTTGTGAACCTGCTCCCAGCCTCTCCCTTCCCCACTGCCTTCCAGGGGCTCCTCCCCAGTAGGACAGAGGAAGCAAAGGCGAGAGGGTGGCCAGAGGCTTTGCAGGGTGATGTTTATTTGCCAGGTTCAGTAGGCACACAGTTAACCCACCGACCTTCACACACCAGAGCAGACCCACAGGCATGCAGGGAGAAGGGCAGGACCACCACGGAGTGCCGAGCAAGGGCGAGGACCAATGTGGCTGCCTATCCAGGCTGTGGTAGGGTCTGACAAAGGGCACCTGTCAGGAGCCTCCCTCAGGAAACTGGGGAGTTTAACCCTACTTCCTCATCCCAGAAAAAGCAACTCAATGTGGCTCTGAGGCACCTGGGCCTCTGATAGAAGTGAGCTGTAGAAAGAGGGAGTTCCTCTTCATTTCATTGTTGAACTGAGCAGAAAATCTGCCCCTGTAAAGGGCAAACCTCCAAATCAGATTATGAGTTATTGCCATGCAGCAAGCCCCCTAGGGTGGAGAGGACTTGTGGGCTGAGATTGTAGGAGGTGGGCATCTAGGAAG
Task1_train_7036
Here’s a variant in GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Congenital stationary night blindness autosomal dominant 3
CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTT
CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGATGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTT
Task1_train_7037
Assess the clinical impact of this variant on gene GNAT1 (G protein subunit alpha transducin 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital stationary night blindness 1G
TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGC
TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGGCTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGC
Task1_train_7038
A mutation in GNAT1 (G protein subunit alpha transducin 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinitis pigmentosa
CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCC
CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCTACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCC
Task1_train_7039
This alteration occurs within gene GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital stationary night blindness autosomal dominant 3
ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCCAAAGTCCAAGCTAGCTCTGGCCTGTGTGGCCCCCACATAAATAAATTAGTGGGGAGGGGGCAGACCTGGGGGCCCTTGGGTGCCAGAGTGAGACACAGCAGGACCCTTCCCCAAATACTAGGCTCAGAGCAACCTCCAGCCTTCTCCAGCAGGATCTGCTCCCTGTGTCCTTGGACAGCAGATCCACACACCACTTCCCCACCCACACACAGTACCCTGGGCTGGTTGGACAACAGGATGGTGTGTTAAGGGGTTAAGGGAGGGTACTGTTGACACCAGCTATGGCCAATAGCTGGGCTGTCCTGAGGGGTGGCTGGGGACAGAGTCCAGCTCCCTTGGATCAGCCCA
ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGGAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCCAAAGTCCAAGCTAGCTCTGGCCTGTGTGGCCCCCACATAAATAAATTAGTGGGGAGGGGGCAGACCTGGGGGCCCTTGGGTGCCAGAGTGAGACACAGCAGGACCCTTCCCCAAATACTAGGCTCAGAGCAACCTCCAGCCTTCTCCAGCAGGATCTGCTCCCTGTGTCCTTGGACAGCAGATCCACACACCACTTCCCCACCCACACACAGTACCCTGGGCTGGTTGGACAACAGGATGGTGTGTTAAGGGGTTAAGGGAGGGTACTGTTGACACCAGCTATGGCCAATAGCTGGGCTGTCCTGAGGGGTGGCTGGGGACAGAGTCCAGCTCCCTTGGATCAGCCCA
Task1_train_7040
This sequence variant lies in SLC38A3 (solute carrier family 38 member 3) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Developmental and epileptic encephalopathy 102
GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCAGCTGGGCATGCCCATTTTGCAGATGGGGAAAGTGAGACTCAGAGCTGTGGACAAACATTCTTCAGATGTCACTCAGTGGCACCATTGGTAACTCCAGCAGAGGGAGGCAGGGGCCCCATCCCAGGCTGAATGGATTCTGACCCTGGCTCCCGACTCATGTCCCTGCAGGGACTGGTACATGAACGGGAACTACCTGGTAATCCTTGTCTCTGTCACCATCATTCTGCCCCTGGCACTGATGCGGCAGCTTGGTGAGTGTGGAAGGGTCAGAGCCTTGGAGGGGATGTTGGAGGCATACACCATGGGAGGGGCCCCAGGTCTCAGAGTGCTCCCTCCACTTTGCAGGCTACCTGGGCTACTCCAGCGGCTTCTCTCTTAGCTGCATGGTGTTCTTCCTAATTGCAGTGAGTCACCCTCCATGTTGGCTGAGAAAGCGGGCAGCGGGTCTCCTGGGGGAGTTCCCTGTCATCAGGAGGGGGCAGGTGTCTCTGGGAAGCCTGGGCCAGAAGGCAGCTCCACCAGTCCTGATCTAGATGTGGCTTCATGGTGACTTCCCAGGCAGTCCAGCCTGGGAGTCTCTGACACCCTCATCCCTCCCCACTCCAGGTCATCTACAAAAAGTTCCACGTGCCCTGCCCACTGCCCCCCAACTTCAACAACACCACAGGCAACTTCAGCCACGTGGAGATCGTGAAGGAGAAGGTGCAGCTGCAGGTCGAGCCTGAGGCTTCAGCCTTCTGCACTCCCAGCTACTTCACGCTCAACTCACAGGTTCTGACAGGTCAGGGCAAGGCGGGGGCCCAATGAGAGTGGCAGACTGCCTTGACACAGCCCCGTGTTTCCCCAGACAGCATACACCATCCCCATCATGGCCTTCGCCTTCGTCTGCCACCCCGAGGTGCTGCCCATCTATACTGAGCTCAAGGAGTAGGTGTCTGTGGCTGGGAGTGGGGGTGGGGATGCCCTGAGCTGGTTTGGGGAGAATGGATGTGGTCCTGAATGTGGAGAGGGGAGTGACAGGAGCCAAGTCACTTTATCTGAGATGTCCTTGGCAGCCATGAGAGGTGATTATGAGCAAGAAGGAGACTCCCTCAGATGCTGAATGGTGAAAGTATGGTGCCAGAGAGAGCTTGGGGCACATGGGGGTCTCCCAATGTTACCCAGCTTGTCACCAACACCCACCCCCCCACTTCCCCACAGCCCCTCCAAGAAGAAGATGCAGCACATCTCCAACCTGTCCATCGCTGTCATGTACATCATGTACTTCCTGGCTGCCCTCTTCGGCTACCTCACCTTCTACAGTACGGTGGCACCGGTGGGCAGAGGCCTAGGCTAGGCTGGGGGGAAGGGGCTGGTTGTGGCCATGGTGCCCTCCATACCGAGGCGTGTGGTGCCTGGCTGTGCCTTGCCGCTGTGGAGGTGAGTCTGCATGCCAATCCCCACAGTGTTGGGGTCCCCTAGGCAGCTCAGATCCCACCTCCTTCCTGGGGCCACCTACTGACCACCCTCCCTGCCTGCCACAGACGGGGTGGAGTCGGAGCTGCTGCACACCTACAGCAAGGTGGACCCGTTTGACGTCCTGATCCTGTGTGTGCGCGTGGCCGTGCTGACAGCAGTCACGCTCACAGTGCCCATCGTTCTGTTCCCGGTGAGCTGGTGGGCAGGTGGCTAGACTAGTGGCGGGAGGGGCTGATGGGGCCAACAGGCTGATGATTCTTCTCACCTGCCCCCCAGGTGCGCCGCGCCATCCAGCAGATGCTGTTTCCAAACCAGGAGTTCAGCTGGCTGCGGCATGTGCTTATTGCCGTTGGCCTGCTCACTTGTATCAACCTGCTGGTCATCTTTGCCCCCAACATCCTGGGCATCTTTGGGGTCATCGGTGAGGGTCTGGCCCTGCTGTGGAAGCAGGGTATTGCCCCAGAGGATTTCAACTCTGCAAATCCTGGCAGATTCCTGAGCTTACACCCTACATTAAGTGCAGTGGCCATGTGCACAGTTTGGCCTTCCATCTGAGCTTTTGTCCATAGGCTATTCTAATCCCTTTTCAGGGCTCAGAGCCACTGAGTCAGTCCCCCTTGCTGGAGGACAGGGGTGGATCCCAGGGATCAGAGGCCGCCTCAAAGGATCTCACTGGGTCTTGTCCACATTTCACATGTCAGGAAACTAAAGTTCAGAGTGATTAAAGGAGCAGCAGGGCCACACAGCTGGTGAATAGGAGCCTTGGGCTTGATTCAGCCCCAGGATCACTGGACTCCAAGTTTGATGCTCCATCCACTGCCTCATTCCAGATGGGGCTCTCAGCTGGTAGAGCAGACAATTCTGAAATGTCTTTGGGGTGATCCAACTCAGAGGACTAACAAACTCTGCCAGGACTGACAAACAGACCTGGGGGCTGAGTGTCATGGATATCACGGACAGCACTCTTCGTTCTCTATGTCCGAAATCCAACTCGAAATGAATTAAGCAGAAAGGAATCCACTGGCTCAAATAACGGAGAAGCCTTCAAGTATAGCTGCAGCCTGGAGCCCAATACCCTTAAGCCCTCATCTCTCTCCATCTCTTGATTTGCCTTTCCTCATTGCTAGCTTCATTGGCTGACATTCTTCTGACACCAACATCACCAGCCTTCTATCCTCATGGATGGAGAACAAGGGGGAGAGGCTGGTGGGCTAGAATCAGGCAGAGCTCTCCAGTGGTCTCAACATGAAACTCCCTCAACAAGGAGTGTTTGATCTCATTGAAGAGTCCACCCCCGAACCTTAGTCAGTAGGAGGATATGAGCCAGCAGTGGCCATGTCTTGTTCTTTGCAGGTGCCACATCTGCCCCATTCCTCATCTTCATCTTCCCTGCCATCTTCTACTTCCGAATCATGCCCACGGAGAAGGAGCCTGCAAGATCCACCCCCAAAATCCTGGTGCGAGGGGCCTGGAGGCCGGTGGGCTGGTATGGGGCTAAGGGAACTGCCCTGACCTCGGACCTGACCCTGACTTCTGATTCCACAGGCCCTGTGTTTTGCTATGCTTGGCTTCTTGCTGATGACCATGAGCTTGAGCTTCATCATCATTGACTGGGCCTCAGGGACCAGCCGGCATGGAGGAAACCACTAGGGTGACCCTCATCCTGTTCTGTCTACTCACCCTAGCAGCCCTGCCCAGACTCTTCAGCCCCTGCTCCCATCCAGTGGCCAGTCGGGGGAGGAGAAAGACGCGATTAACACTGTGGCATTCAGCCAGGCCCCATGTCCTCTCTGTGGAAGGTTTTTGTTCAAGAGCCAGGACCAAGGCCCTTGGGCCACTACCCTGCTAGGCTCTGGAGCTGTAGAGGCTTCCTGAACTGGGAGCAGGGTAGGGCTGTCGCCTTAGATCCCGCCCAAGCCCCTCATTCCCTCCTTGCACAGATGCATACACTGGGGCCCAGCAGCTGCCTCCTGAGGTGACACAGCCTGTAGGAACATACACAGCTGGGATCAGCCTGCAGCCATCCCCCGACCCTGCTGCTAGGCCACGGTCTGCGCCCTGGGGCCTCATCTCCCCCAGCCCACTTGTTTTCCCCCCTTTTATTCCCTAGGCCCTTTTCAGACTCCTGGGCCCTTGGATACTCTTCTCCCATCTCCCTTCACAGGATGACACCCTCCCATACCCCATAGCTGGGGCCAG
GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCAGCTGGGCATGCCCATTTTGCAGATGGGGAAAGTGAGACTCAGAGCTGTGGACAAACATTCTTCAGATGTCACTCAGTGGCACCATTGGTAACTCCAGCAGAGGGAGGCAGGGGCCCCATCCCAGGCTGAATGGATTCTGACCCTGGCTCCCGACTCATGTCCCTGCAGGGACTGGTACATGAACGGGAACTACCTGGTAATCCTTGTCTCTGTCACCATCATTCTGCCCCTGGCACTGATGCGGCAGCTTGGTGAGTGTGGAAGGGTCAGAGCCTTGGAGGGGATGTTGGAGGCATACACCATGGGAGGGGCCCCAGGTCTCAGAGTGCTCCCTCCACTTTGCAGGCTACCTGGGCTACTCCAGCGGCTTCTCTCTTAGCTGCATGGTGTTCTTCCTAATTGCAGTGAGTCACCCTCCATGTTGGCTGAGAAAGCGGGCAGCGGGTCTCCTGGGGGAGTTCCCTGTCATCAGGAGGGGGCAGGTGTCTCTGGGAAGCCTGGGCCAGAAGGCAGCTCCACCAGTCCTGATCTAGATGTGGCTTCATGGTGACTTCCCAGGCAGTCCAGCCTGGGAGTCTCTGACACCCTCATCCCTCCCCACTCCAGGTCATCTACAAAAAGTTCCACGTGCCCTGCCCACTGCCCCCCAACTTCAACAACACCACAGGCAACTTCAGCCACGTGGAGATCGTGAAGGAGAAGGTGCAGCTGCAGGTCGAGCCTGAGGCTTCAGCCTTCTGCACTCCCAGCTACTTCACGCTCAACTCACAGGTTCTGACAGGTCAGGGCAAGGCGGGGGCCCAATGAGAGTGGCAGACTGCCTTGACACAGCCCCGTGTTTCCCCAGACAGCATACACCATCCCCATCATGGCCTTCGCCTTCGTCTGCCACCCCGAGGTGCTGCCCATCTATACTGAGCTCAAGGAGTAGGTGTCTGTGGCTGGGAGTGGGGGTGGGGATGCCCTGAGCTGGTTTGGGGAGAATGGATGTGGTCCTGAATGTGGAGAGGGGAGTGACAGGAGCCAAGTCACTTTATCTGAGATGTCCTTGGCAGCCATGAGAGGTGATTATGAGCAAGAAGGAGACTCCCTCAGATGCTGAATGGTGAAAGTATGGTGCCAGAGAGAGCTTGGGGCACATGGGGGTCTCCCAATGTTACCCAGCTTGTCACCAACACCCACCCCCCCACTTCCCCACAGCCCCTCCAAGAAGAAGATGCAGCACATCTCCAACCTGTCCATCGCTGTCATGTACATCATGTACTTCCTGGCTGCCCTCTTCGGCTACCTCACCTTCTACAGTACGGTGGCACCGGTGGGCAGAGGCCTAGGCTAGGCTGGGGGGAAGGGGCTGGTTGTGGCCATGGTGCCCTCCATACCGAGGCGTGTGGTGCCTGGCTGTGCCTTGCCGCTGTGGAGGTGAGTCTGCATGCCAATCCCCACAGTGTTGGGGTCCCCTAGGCAGCTCAGATCCCACCTCCTTCCTGGGGCCACCTACTGACCACCCTCCCTGCCTGCCACAGACGGGGTGGAGTCGGAGCTGCTGCACACCTACAGCAAGGTGGACCCGTTTGACGTCCTGATCCTGTGTGTGCGCGTGGCCGTGCTGCCAGCAGTCACGCTCACAGTGCCCATCGTTCTGTTCCCGGTGAGCTGGTGGGCAGGTGGCTAGACTAGTGGCGGGAGGGGCTGATGGGGCCAACAGGCTGATGATTCTTCTCACCTGCCCCCCAGGTGCGCCGCGCCATCCAGCAGATGCTGTTTCCAAACCAGGAGTTCAGCTGGCTGCGGCATGTGCTTATTGCCGTTGGCCTGCTCACTTGTATCAACCTGCTGGTCATCTTTGCCCCCAACATCCTGGGCATCTTTGGGGTCATCGGTGAGGGTCTGGCCCTGCTGTGGAAGCAGGGTATTGCCCCAGAGGATTTCAACTCTGCAAATCCTGGCAGATTCCTGAGCTTACACCCTACATTAAGTGCAGTGGCCATGTGCACAGTTTGGCCTTCCATCTGAGCTTTTGTCCATAGGCTATTCTAATCCCTTTTCAGGGCTCAGAGCCACTGAGTCAGTCCCCCTTGCTGGAGGACAGGGGTGGATCCCAGGGATCAGAGGCCGCCTCAAAGGATCTCACTGGGTCTTGTCCACATTTCACATGTCAGGAAACTAAAGTTCAGAGTGATTAAAGGAGCAGCAGGGCCACACAGCTGGTGAATAGGAGCCTTGGGCTTGATTCAGCCCCAGGATCACTGGACTCCAAGTTTGATGCTCCATCCACTGCCTCATTCCAGATGGGGCTCTCAGCTGGTAGAGCAGACAATTCTGAAATGTCTTTGGGGTGATCCAACTCAGAGGACTAACAAACTCTGCCAGGACTGACAAACAGACCTGGGGGCTGAGTGTCATGGATATCACGGACAGCACTCTTCGTTCTCTATGTCCGAAATCCAACTCGAAATGAATTAAGCAGAAAGGAATCCACTGGCTCAAATAACGGAGAAGCCTTCAAGTATAGCTGCAGCCTGGAGCCCAATACCCTTAAGCCCTCATCTCTCTCCATCTCTTGATTTGCCTTTCCTCATTGCTAGCTTCATTGGCTGACATTCTTCTGACACCAACATCACCAGCCTTCTATCCTCATGGATGGAGAACAAGGGGGAGAGGCTGGTGGGCTAGAATCAGGCAGAGCTCTCCAGTGGTCTCAACATGAAACTCCCTCAACAAGGAGTGTTTGATCTCATTGAAGAGTCCACCCCCGAACCTTAGTCAGTAGGAGGATATGAGCCAGCAGTGGCCATGTCTTGTTCTTTGCAGGTGCCACATCTGCCCCATTCCTCATCTTCATCTTCCCTGCCATCTTCTACTTCCGAATCATGCCCACGGAGAAGGAGCCTGCAAGATCCACCCCCAAAATCCTGGTGCGAGGGGCCTGGAGGCCGGTGGGCTGGTATGGGGCTAAGGGAACTGCCCTGACCTCGGACCTGACCCTGACTTCTGATTCCACAGGCCCTGTGTTTTGCTATGCTTGGCTTCTTGCTGATGACCATGAGCTTGAGCTTCATCATCATTGACTGGGCCTCAGGGACCAGCCGGCATGGAGGAAACCACTAGGGTGACCCTCATCCTGTTCTGTCTACTCACCCTAGCAGCCCTGCCCAGACTCTTCAGCCCCTGCTCCCATCCAGTGGCCAGTCGGGGGAGGAGAAAGACGCGATTAACACTGTGGCATTCAGCCAGGCCCCATGTCCTCTCTGTGGAAGGTTTTTGTTCAAGAGCCAGGACCAAGGCCCTTGGGCCACTACCCTGCTAGGCTCTGGAGCTGTAGAGGCTTCCTGAACTGGGAGCAGGGTAGGGCTGTCGCCTTAGATCCCGCCCAAGCCCCTCATTCCCTCCTTGCACAGATGCATACACTGGGGCCCAGCAGCTGCCTCCTGAGGTGACACAGCCTGTAGGAACATACACAGCTGGGATCAGCCTGCAGCCATCCCCCGACCCTGCTGCTAGGCCACGGTCTGCGCCCTGGGGCCTCATCTCCCCCAGCCCACTTGTTTTCCCCCCTTTTATTCCCTAGGCCCTTTTCAGACTCCTGGGCCCTTGGATACTCTTCTCCCATCTCCCTTCACAGGATGACACCCTCCCATACCCCATAGCTGGGGCCAG
Task1_train_7041
A variant found in Chromosome 3 affects GNAI2 (G protein subunit alpha i2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Pituitary dependent hypercortisolism
GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCG
GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCGGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCG
Task1_train_7042
An alteration has been detected in GNAI2 (G protein subunit alpha i2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Ovarian granulosa cell tumor
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
Task1_train_7043
A mutation in GNAI2 (G protein subunit alpha i2), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Thecoma, somatic
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
Task1_train_7044
A variant affecting Chromosome 3, within the gene GNAI2 (G protein subunit alpha i2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Adrenocortical tumor, somatic
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
Task1_train_7045
The gene GNAI2 (G protein subunit alpha i2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Ventricular tachycardia, somatic
ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGGGAGAGAGGCACGCCCTGGCTGCTTCCCGATCCATGCTCTGCTTTCCCCCACCTCCAGGGCCACCGCCGACTTTGTACCCCCCAACCCCTGAGGAAGATGGGGGCAAGAAGATCACGCTCCCCGCCTGTTCCCCCGCCGCTTTTCTCCTCTTTCCTCTCTTTGTTCTCAGCTCCCCCTGTCCCCTCAGCTCCAGACGTAGGGGAGGGGTTGCCACAGGCCTCCCTGTTTGAAGCCTGCCCTTGTCTGAGATGCTGGTAATGGCCATGGTACCCCCTTCTGGGCATCTGTTCTGGTTTTTAACCATTGTCTTGTTCTGTGATGAGGGGAGGGGGGCACATGCTGAGTCTCCCAAGGCTGCGTCTGGAGGGGCCCCTGCTTCTCCAGCCTGGACCCCCAGCTTTGCCCAACACCAGCCCCTGCCCCAGCCCAAGTCCAAATGTTTACAGGGAGCCTCCTGCCCAGTCCC
ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTAGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGGGAGAGAGGCACGCCCTGGCTGCTTCCCGATCCATGCTCTGCTTTCCCCCACCTCCAGGGCCACCGCCGACTTTGTACCCCCCAACCCCTGAGGAAGATGGGGGCAAGAAGATCACGCTCCCCGCCTGTTCCCCCGCCGCTTTTCTCCTCTTTCCTCTCTTTGTTCTCAGCTCCCCCTGTCCCCTCAGCTCCAGACGTAGGGGAGGGGTTGCCACAGGCCTCCCTGTTTGAAGCCTGCCCTTGTCTGAGATGCTGGTAATGGCCATGGTACCCCCTTCTGGGCATCTGTTCTGGTTTTTAACCATTGTCTTGTTCTGTGATGAGGGGAGGGGGGCACATGCTGAGTCTCCCAAGGCTGCGTCTGGAGGGGCCCCTGCTTCTCCAGCCTGGACCCCCAGCTTTGCCCAACACCAGCCCCTGCCCCAGCCCAAGTCCAAATGTTTACAGGGAGCCTCCTGCCCAGTCCC
Task1_train_7046
Given a variant located on Chromosome 3 and affecting HYAL2 (hyaluronidase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; HYAL2 deficiency
GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTCTTTGCATCTAGTGTGCATCTACCTCTATTTTGTCACTCCCACAAGGACGGGGGTCTTTGTTGGTGTGGTTCATAGATGCATCATCGATGCATCCCCAGCACCTAGCCCAGCACAGGCACACTGTGTGCTCAGCGTTTACTGAATGAGTAAGTCAGTATTAGGTGAAGTCAGGCCTGGTGCTGCTCTAGGGCTGCCCCTCCTGCCTCTGCCCACAGCAGCCACTAAGCCACACCCCAGCCCTGAACTGTTCACCTTCACCACCTCCAACTTCCTCCAGCCTCTGCCCAGGATTTGTTCCTGAGCATCGAGCTGCCGCCCTCACCTTTTAGAACCCAATGTGGGAAGCATCTCCAAGGGCACCACCCCTGCTCCCCTGCTGCTGGCTGCCCTCACCACTCAACGGCTTCTTGAGTCTGTCTCCCCAGAGCCAGAGCCTCCTGAAGCAGGGCTGCGTGGTGAGTCATCACGGACATGGGCGGGACCCCAGGTGTGGGGTTGCTGGCTGAGGGGAGAGGCAGAATGCACTCCCGTCAGAGGCAGGGCTAGTGAAGCAGCTCAGAGCTGGTCTGACAACTCCAGCTGCTCCTTCTTTCCTCAGGGACAGCCAGAGACTAGCCATACTCTCCCACAGCCAGGACGGAGCAGACCTTAGAAGATGTTCCTGCTCCCAGGCCCAAGATGCCACCTCCCAGCCCCATCAGGCATCTCTAGAATGGGACAGGGACTGAACCTCACGATTCAGATCCCAATCCCCTGCCCACCTCCCACCACCAGATCCGAGGGAGGGCTGTGACCCTGATGAGAGGTGTATGTGGCTGGTGTCCACTGCCCTTGGGAGCAGGGACTGGAGGAGACACCCTTGCCTGTGGGAACAGCAGGGAAGATCAAACGTTTCTCCCTTGGGTTGGCAAGGAGGCTGGCACTGGTCCAGCTGGGAGGACAGGGGCAAGTGGCAGAAACACAATGAGCCCTGTCCCTCACACAAGGCGGGGCCTGACTCCCTTGCAACCAATACGGAGAAAGCAACGTCCTTGGTGTTGGGATGGAATGTGGGTCCCTCCACTCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCC
GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTCTTTGCATCTAGTGTGCATCTACCTCTATTTTGTCACTCCCACAAGGACGGGGGTCTTTGTTGGTGTGGTTCATAGATGCATCATCGATGCATCCCCAGCACCTAGCCCAGCACAGGCACACTGTGTGCTCAGCGTTTACTGAATGAGTAAGTCAGTATTAGGTGAAGTCAGGCCTGGTGCTGCTCTAGGGCTGCCCCTCCTGCCTCTGCCCACAGCAGCCACTAAGCCACACCCCAGCCCTGAACTGTTCACCTTCACCACCTCCAACTTCCTCCAGCCTCTGCCCAGGATTTGTTCCTGAGCATCGAGCTGCCGCCCTCACCTTTTAGAACCCAATGTGGGAAGCATCTCCAAGGGCACCACCCCTGCTCCCCTGCTGCTGGCTGCCCTCACCACTCAACGGCTTCTTGAGTCTGTCTCCCCAGAGCCAGAGCCTCCTGAAGCAGGGCTGCGTGGTGAGTCATCACGGACATGGGCGGGACCCCAGGTGTGGGGTTGCTGGCTGAGGGGAGAGGCAGAATGCACTCCCGTCAGAGGCAGGGCTAGTGAAGCAGCTCAGAGCTGGTCTGACAACTCCAGCTGCTCCTTCTTTCCTCAGGGACAGCCAGAGACTAGCCATACTCTCCCACAGCCAGGACGGAGCAGACCTTAGAAGATGTTCCTGCTCCCAGGCCCAAGATGCCACCTCCCAGCCCCATCAGGCATCTCTAGAATGGGACAGGGACTGAACCTCACGATTCAGATCCCAATCCCCTGCCCACCTCCCACCACCAGATCCGAGGGAGGGCTGTGACCCTGATGAGAGGTGTATGTGGCTGGTGTCCACTGCCCTTGGGAGCAGGGACTGGAGGAGACACCCTTGCCTGTGGGAACAGCAGGGAAGATCAAACGTTTCTCCCTTGGGTTGGCAAGGAGGCTGGCACTGGTCCAGCTGGGAGGACAGGGGCAAGTGGCAGAAACACAATGAGCCCTGTCCCTCACACAAGGCGGGGCCTGACTCCCTTGCAACCAATACGGAGAAAGCAACGTCCTTGGTGTTGGGATGGAATGTGGGTCCCTCCACTCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGACGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCC
Task1_train_7047
A genomic change on Chromosome 3 affects HYAL2 (hyaluronidase 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; HYAL2-related disorder
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
Task1_train_7048
Here is a variant affecting HYAL2 (hyaluronidase 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; HYAL2 deficiency
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
Task1_train_7049
A variant has been detected on Chromosome 3 in HYAL2 (hyaluronidase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
Task1_train_7050
This mutation is located in gene HYAL2 (hyaluronidase 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; HYAL2 deficiency
TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTCTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
Task1_train_7051
Gene HYAL2 (hyaluronidase 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome
TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTCTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
Task1_train_7052
The variant affects gene ZMYND10 (zinc finger MYND-type containing 10), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Primary ciliary dyskinesia
GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCTTCCCAGCGCGCCCAGCGGGTGCCAGCTCCCGCAGCTCAATGAGCTCAGGCTCCCCCGACATGGCCCGGTTGGGCCCGTGCTTCGCTGGCTTTGGGCGCTAGCAAGCGCGGGCCGGGCGGGGCCACAGGGCGGGCCCCGACTTCAGCGCCTCCCCCAGGATCCAGACTGGGCGGCGGGAAGGAGCTGAGGAGAGCCGCGCAATGGAAACCTGGGTGCAGGGACTGTGGGGCCCGAAGGCGGGGCTGGGCGCGCTCTCGCAGAGCCCCCCCCGCCTTGCCCTTCCTTCCCTCCTTCGTCCCCTCCTCACACCCCACCCCGGACGGCCACAACGACGGCGACCGCAAAGCACCACGCGGAGATACCCGTGTTTCTGGAGGCCAGCTTTACTGTGCTAGAGGAAGAGGGTCCCCACATCCGGCCCTGGCCCTCCTGGTCCGGTTTGCTGAAGCAACACACTTGGCCTACCCACTGGGTGGGGCAGGAAGTCTCGAGCCTTCACTTGGGGTGAGGAGGAGGGAGATCGGTCAGCAGCTTTACCGCCCGCTCTGCTCTCCACTGCGGAGACTGGGGCTCCGGCAGAGGCTGGACCGTGATCTTGAGGTTCAGGGGTGCATTCTGGGTGGATTCCCTTGGCATGGGTGGTCGGCCCTCAGCAACTGCAGCCCTCATTTGGCTCTGTCACCCTGGGCTGCCAGGACACAAGTCTTTCCATGCTTTTCCCAGTGCTTGACTTGGCACTCCCTGCAGGCAGGTGGGTATTGAGGATGGCAATGCATGTGGGGGATGTGGGAGTAGGGCTTAGAGGTCCAAGGTTCTAGGATACCCTCACCTGCAGCAATACCACTCATTCTGGCATCGTGAGCAGCGCTTAGAAGCCTCTGCACTGCAGTAAGCACAGCGGGGCCGCTCTGGAGCCACTGCCTCTAGCACATCCAGCCTGTAGGTCTCAGCCCACCTGGGGGAAAGTCAGGAAGGTCTGACTGGCCCTGGAAGGTGGGGGCACCCCACCCACATCCATGCCTCCTGCATCCCCTCCACCCTCCCTGCCATTTCCACAGGCCTTACCTTCGCGCCTGCAGCCGCAGGTCCTGCTCTGAGGGGCTGAACACATGCTGGAGCTGGTGCTTGGCAATTGCCTGCCACTTGCCTCTGTTTTCTCGCTCCAGCCGCTCCCAGATTTCTGGGATCTAGGAGAGAGAAGTGGAGAGTGGCAGGAAGGTGCTGGTAAAGTGGGACAGTGGTCCTGAGCAGCTAACTTTCCAGTGCCTACCTGTTCCAACACCAGGTCCTTCTTAGGAGGCTGGGTTTCAGTTAGGGTCAGATGGGCCAGGAAACTCTGCAAGTGGGCCAGGTTGGGCAGCTGGTCCAGCAGTGTGTCTGTGAGGAAGGCCCGAAGCTGCAAGGGTGTCCAGTGGAGGCCAGTGTGATGCAGGTGCTGGCCAGGGGGCCAAGGAAAAGGAAGGGGCTGGGTTGGGCTGAGAATGCCTGTGGGGGCCCATGTCCCACTAGCTGGTGTGTCACCTGAGGCCCAAGGACTGAAAAGAGCACTGGGGTTGAGGTGGGTGGGCAAAGATAAACAGCAGGGACGCAGTCGGGGTAGGATGGGGAGGGCGGTACTGGGGCTGTGGGGGCTGGTGCGGAGGGAGTCTGACCTTGAGTAGCCGTCCCTTGGCAAAACTTGTGAGGCAGTAGCGCGCCTGAGCCTCAGGGCTTAGCAGCAGGTTGTACAGGGCGATCCACACTTGCCCGTCCAACTTGCTCAGCTTTTGCTGCTCTGAGGGGGCCACAGTATGCCAACGGCTGCCCTCGAACTGCTGCAGCTTGCCTGGGGAGAGGAACCAGCACACTGGGTGCAGACGTTGAATTCTCTTCAAGTGAGCCAGCTGTGGGGGCTGGGAGACTGACCACTGCCTGGGAATGGGAGAACCTGGGCTGCAGGACTTGCCCAGGCTATAGGGCTGCTGACCCCAGAGCAGGGTGAGCCTCAGTAGTGGACACATGGGCCTGGCCTGCTGCAGAGCTCAGGTCTAGGCCAACCTTGGCTGAGGCATCCTGGTATCCTCAGTGGGCTTGGGGACAGGGTTTGTCTTCGTGTGTGCAAGCTGCCCCCCTCTATCAAAAAGATACCCTGAAGCAGTAGCCTGGGGCTTAGGCTGGTGGGGGAGGACCCTACCTCCTTCCCGCCGGCTCCAGGGACTATGCTCCAGCAGTTCCACCAGGAGGCAGGGCAGGTTGTGTGTGCTAAGCATACGGCTCAAGGTGCTGAGAGAGAGGCTAGGGGCAGGGACGTTGTGAAGGAGGTGAGTAGAGGCAGGCTACAGGCCCGGTCTTCCAGCCCTCCACAGTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCAT
GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCTTCCCAGCGCGCCCAGCGGGTGCCAGCTCCCGCAGCTCAATGAGCTCAGGCTCCCCCGACATGGCCCGGTTGGGCCCGTGCTTCGCTGGCTTTGGGCGCTAGCAAGCGCGGGCCGGGCGGGGCCACAGGGCGGGCCCCGACTTCAGCGCCTCCCCCAGGATCCAGACTGGGCGGCGGGAAGGAGCTGAGGAGAGCCGCGCAATGGAAACCTGGGTGCAGGGACTGTGGGGCCCGAAGGCGGGGCTGGGCGCGCTCTCGCAGAGCCCCCCCCGCCTTGCCCTTCCTTCCCTCCTTCGTCCCCTCCTCACACCCCACCCCGGACGGCCACAACGACGGCGACCGCAAAGCACCACGCGGAGATACCCGTGTTTCTGGAGGCCAGCTTTACTGTGCTAGAGGAAGAGGGTCCCCACATCCGGCCCTGGCCCTCCTGGTCCGGTTTGCTGAAGCAACACACTTGGCCTACCCACTGGGTGGGGCAGGAAGTCTCGAGCCTTCACTTGGGGTGAGGAGGAGGGAGATCGGTCAGCAGCTTTACCGCCCGCTCTGCTCTCCACTGCGGAGACTGGGGCTCCGGCAGAGGCTGGACCGTGATCTTGAGGTTCAGGGGTGCATTCTGGGTGGATTCCCTTGGCATGGGTGGTCGGCCCTCAGCAACTGCAGCCCTCATTTGGCTCTGTCACCCTGGGCTGCCAGGACACAAGTCTTTCCATGCTTTTCCCAGTGCTTGACTTGGCACTCCCTGCAGGCAGGTGGGTATTGAGGATGGCAATGCATGTGGGGGATGTGGGAGTAGGGCTTAGAGGTCCAAGGTTCTAGGATACCCTCACCTGCAGCAATACCACTCATTCTGGCATCGTGAGCAGCGCTTAGAAGCCTCTGCACTGCAGTAAGCACAGCGGGGCCGCTCTGGAGCCACTGCCTCTAGCACATCCAGCCTGTAGGTCTCAGCCCACCTGGGGGAAAGTCAGGAAGGTCTGACTGGCCCTGGAAGGTGGGGGCACCCCACCCACATCCATGCCTCCTGCATCCCCTCCACCCTCCCTGCCATTTCCACAGGCCTTACCTTCGCGCCTGCAGCCGCAGGTCCTGCTCTGAGGGGCTGAACACATGCTGGAGCTGGTGCTTGGCAATTGCCTGCCACTTGCCTCTGTTTTCTCGCTCCAGCCGCTCCCAGATTTCTGGGATCTAGGAGAGAGAAGTGGAGAGTGGCAGGAAGGTGCTGGTAAAGTGGGACAGTGGTCCTGAGCAGCTAACTTTCCAGTGCCTACCTGTTCCAACACCAGGTCCTTCTTAGGAGGCTGGGTTTCAGTTAGGGTCAGATGGGCCAGGAAACTCTGCAAGTGGGCCAGGTTGGGCAGCTGGTCCAGCAGTGTGTCTGTGAGGAAGGCCCGAAGCTGCAAGGGTGTCCAGTGGAGGCCAGTGTGATGCAGGTGCTGGCCAGGGGGCCAAGGAAAAGGAAGGGGCTGGGTTGGGCTGAGAATGCCTGTGGGGGCCCATGTCCCACTAGCTGGTGTGTCACCTGAGGCCCAAGGACTGAAAAGAGCACTGGGGTTGAGGTGGGTGGGCAAAGATAAACAGCAGGGACGCAGTCGGGGTAGGATGGGGAGGGCGGTACTGGGGCTGTGGGGGCTGGTGCGGAGGGAGTCTGACCTTGAGTAGCCGTCCCTTGGCAAAACTTGTGAGGCAGTAGCGCGCCTGAGCCTCAGGGCTTAGCAGCAGGTTGTACGGGGCGATCCACACTTGCCCGTCCAACTTGCTCAGCTTTTGCTGCTCTGAGGGGGCCACAGTATGCCAACGGCTGCCCTCGAACTGCTGCAGCTTGCCTGGGGAGAGGAACCAGCACACTGGGTGCAGACGTTGAATTCTCTTCAAGTGAGCCAGCTGTGGGGGCTGGGAGACTGACCACTGCCTGGGAATGGGAGAACCTGGGCTGCAGGACTTGCCCAGGCTATAGGGCTGCTGACCCCAGAGCAGGGTGAGCCTCAGTAGTGGACACATGGGCCTGGCCTGCTGCAGAGCTCAGGTCTAGGCCAACCTTGGCTGAGGCATCCTGGTATCCTCAGTGGGCTTGGGGACAGGGTTTGTCTTCGTGTGTGCAAGCTGCCCCCCTCTATCAAAAAGATACCCTGAAGCAGTAGCCTGGGGCTTAGGCTGGTGGGGGAGGACCCTACCTCCTTCCCGCCGGCTCCAGGGACTATGCTCCAGCAGTTCCACCAGGAGGCAGGGCAGGTTGTGTGTGCTAAGCATACGGCTCAAGGTGCTGAGAGAGAGGCTAGGGGCAGGGACGTTGTGAAGGAGGTGAGTAGAGGCAGGCTACAGGCCCGGTCTTCCAGCCCTCCACAGTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCAT
Task1_train_7053
A variant on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Primary ciliary dyskinesia
GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGT
GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGGGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGT
Task1_train_7054
With a mutation on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Primary ciliary dyskinesia 22
TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCCCCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
Task1_train_7055
This gene mutation involves ZMYND10 (zinc finger MYND-type containing 10) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; Primary ciliary dyskinesia
TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCCCCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
Task1_train_7056
Located on Chromosome 3, this mutation impacts ZMYND10 (zinc finger MYND-type containing 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Primary ciliary dyskinesia
ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGAT
ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCACATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGAT
Task1_train_7057
Gene NPRL2 (NPR2 like, GATOR1 complex subunit) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Epilepsy, familial focal, with variable foci 2
AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCAGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCCCAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTC
AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCGGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCCCAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTC
Task1_train_7058
The gene CACNA2D2, CYB561D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| CYB561D2-LOC101928965) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCC
CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGGGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCC
Task1_train_7059
This sequence variant lies in CACNA2D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| CYB561D2-LOC101928965) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCA
ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCGGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCA
Task1_train_7060
This alteration in CACNA2D2, CYB561D2, LOC101928965, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| uncharacterized LOC101928965| CYB561D2-LOC101928965) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCAGCCCAAGCACCCAGCACTCAGGACAGTGTTTGGCACAGTCTATCCCTCTTTTCACGTCTGCCCTGGCCTCAGCCAGCCTTGTGTTGGAGAGGGGCCTCAGACAGCAGAGCCCAGTTCTGGCTGAGCAGACAGGGAAGCTGAGGCTCCCTGCCTGCTGCTGGGCACACTGCGGGGACACTCACCATCCTGGTGTGGGGGCTTGAAGACATAACCGTGGTTATCCAGGCTGCGGCGGTAGAAGCTGGCATTGAAGGGCTCAGGGTTCTCTGTCCAGTCCTCAGCTGCCCTGGAGCACCCAAGAGGCAGACTGGTAGGTAAGGGGTGGCTTGTCGGGGACAGTGGTCTCCACAGATGCAAGGAGGCCTCTGGGCAGAACAGATGCAGGTTCCCTGGCAGGGGCAGGGTTTGGGTAGTGGGATAGGTCACTTACTTGTTGGGGAAGACTCGGGTGATGCCACCGTCTGTGGCA
TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACTTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCAGCCCAAGCACCCAGCACTCAGGACAGTGTTTGGCACAGTCTATCCCTCTTTTCACGTCTGCCCTGGCCTCAGCCAGCCTTGTGTTGGAGAGGGGCCTCAGACAGCAGAGCCCAGTTCTGGCTGAGCAGACAGGGAAGCTGAGGCTCCCTGCCTGCTGCTGGGCACACTGCGGGGACACTCACCATCCTGGTGTGGGGGCTTGAAGACATAACCGTGGTTATCCAGGCTGCGGCGGTAGAAGCTGGCATTGAAGGGCTCAGGGTTCTCTGTCCAGTCCTCAGCTGCCCTGGAGCACCCAAGAGGCAGACTGGTAGGTAAGGGGTGGCTTGTCGGGGACAGTGGTCTCCACAGATGCAAGGAGGCCTCTGGGCAGAACAGATGCAGGTTCCCTGGCAGGGGCAGGGTTTGGGTAGTGGGATAGGTCACTTACTTGTTGGGGAAGACTCGGGTGATGCCACCGTCTGTGGCA
Task1_train_7061
This variant lies on Chromosome 3 and affects the gene MAPKAPK3 (MAPK activated protein kinase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Patterned macular dystrophy 3
TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAGAAAAACATTAAGTGACTTGCCCAGGGGCTGTGTAGTTGCTGCACTGGGATTCATTCATTCATTTGTTTACTTGTTCAGCAAGAAATTTTGTGTGGATGCAATGTGCCAGGCCTCAGGCAGGGGCTGCCTGATGCTGTTGGTTTTTTTTGTTTTGTTTTATTTTGTTCTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCTTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTAGGCAGGTTGGTCTTGAACTCCTGACCTTAGGTAATCCGCCCGCCTCGGCCTCGAAAAGTGCTGGGATTACAGGCGTGAGCCATTCCACCTGGCCCTGTTGCGGCTTTTGTGAAGTCACAGCCATAGCTTTGACAGATCAGGCCCCCTGATACCAGCATTTTAAGGGAAAGAAGCCATTTGCTGAGCCCTGGAGGAAGGAACAGAGGTAGTGCCAGTTGTTGGGCCACCTTCCAGTCTTGAGGCTGGAAGCTCAGCTCTCCAAATTTCCTATCCTGGGAGGACTGGGTCTTAGAGGTCATCTGGATCAGATGGATGAAATGCAAACCAAGGCAGCACACACATGCATGTGCACACAAGCATGTGTGAGCACTATCAGAGCAGAGTCTGCTCCTCCTGGGCCCTCTGCCCCAAGCCTAGAACGTTACCTTCCTTGGCTTATTTCCTCCTCAGACTGGGCAGAGGCGAGCTGAGGTTACAGCTGCTGCATAAGGTCCTCCCTCTGGCTGAGCACCCCAACCTGTAAATCCTTGCTTTATTTGGACCCTGGCTTTTTTTTCCCGAAGAGAGAAAAGCCTTCTGCAGAGGAGATTCCCTTGAATAGACTAAAACTGCTTCTCTGTTTTTATCACAATTGAGAAGGTCAGATCTTCTCAAATGGAACCTGAGAAATAGCATCCATTGGTTCTAAACCACCACCCCATCCTTCTACCAACACCCCATCCTTCTACCCCGGCTCTGCTTGGGGGTCTCTTCTGCCCCTCTCCATGGGCCTACATCCTACCTACCATTCATTAAAAACCAGTTTCAGGGACAGACCTCCCTACTGCCCTCATCTGCCAGGCCCCTGGCTACTCCTGGGACACAGGAAGATTGCCCCTGTGCAGCTCCTGGGGTCTGGGGTCTGAGCAACCAGGGCCTTCTCCCCTGAGCAACCTCAGATGGGGCTGTCCTTCTAGCCCTGTAGGATTCACTCTGGGCTGGGTATGGGACATGTGCTTGGCAATACTGACTTATGAGCAGCCTGCCTTCCCCCAGCACCCTTGCTCTAGCATTTCATGGCAATGTCACCAACTCAGGATCAGAAGTTCCTGCTCCGAGGCTTTCTATGGCACTTGGTCATTCACAGCCTTGGCTGAGCACCTGCCTTGCTTCCCCTTTTGTGAATGAAGGTAGCACCTTGGGTTTCTCTATATTTGGCCCATGTTAGTGGGCAAGGCCCGGGTCTTTTTATAAATGGACCTGGCTCCTTCTGCACTGGGATGGAGTCGGGGAGTCTGGCTGAAGATCACCTTGGGGCTCTGCTCCTGCCTGGTTCCTAACTCCAAACCAATGTTTTCTCTTTCTGGCCCAGCCTGAAAACCTACTCTACACATCTAAGGAGAAAGACGCAGTGCTTAAGCTCACCGATTTTGGCTTTGCTAAGGAGACCACCCAAAATGCCCTGCAGACACCCTGCTATACTCCCTATTATGTGGGTGAGTCCTTCGGACATGAGTTGTAACTCCTCACCCCAACTTATACAGCTGTATTATGGGGTAGCCAGTGGGTTGCAGAAACCAAAGGGTTAAAGCCCAGCAAGGAGGGAGGGGGAGAATTCTGTCTGCATGGAGGCGGGTGACGTGGGGGGCCGGAGGCTGCAAAAATATTCTCCCAAACTTCAGCTTCTGCTTTTGAAAATAGATCCAGGAAAATTCTGGCTGTGGCCTGTGAGCTGAATGACATCACAGCAGCTCTAAATATATATGTGATAAAAGGCTGCCATCAGCTTGGGACGGAGCCCAACCGCGGTTGTTTTTCTCTAGTTTTTGTCTTCCTGGGATTCATATTCAGAAAGTGGGCATGCATTTCCTCCTAACTTGGAGGGACAAAGGGTACCAGTCACCTGCCTTGTGGGAGACGGTCACTAAAGCCAGGGCTTGGAGGTGTGCACATACTCATGCTTCCTGGAAAAGTTCACTGCCCTTCTGCAAGTGGGCAACCCCCGGATCTGAAAATGTTCCTTGCCAAAACTGCCCCCTAACCTGAGAGTGGGGTGATGACAGAGGGCTTTTCTCCCTCAGAAGAGGTCTTCCTGGAGGGCTGCTGAAGGGGTGGGAAGTTCCCTGAGACAGTTGAAATGGCACTCTGTTAACTAGGATGTGTTTTGCACTAAGTATTTTAACTTAGAAATCTTCTAGCCTACCCACCTCATTGCACAGGGAAGACAAAGGCTCCATGGATTGGTAGCCAAGCTGATGATGGAATGCAGAGCCCTGTCCCTGGTTCTTCCTTGCCTGTGACCTAGGCTATGCATTCAGGGAGGCAAGGGACACAGGACAGCTGGCAGGCCAAGACCCTCTCACCTACGGTAGCTTCCCACCAAGCCCCAGACTGGCCTTCTCTTCTCTTCTTTCACCAAGGTTGAGACTGGTAGAGGGGCTCAGGCCCAAGGGAGCTAGGGGTATGTCTGAAAGTGGTTGATTTTTTTCCAGGAGCTTTCTCCTCCCCCAACTTCACACACATGCTGCCTTTCCAAAAGGTGCCAGACGCCAGTCTGCTCTGCCCTACCTCCCAGCCCAGGTACCTGCTCCCCACCTTGCCCAGGCTTTAGGCTCCTGCCTGGGCTCCAAGACCCTTGGGTCTGAGAGCCCTGCTGTCCCTCTGCCCTGGCAGCCCCTGAGGTCCTGGGTCCAGAGAAGTATGACAAGTCATGTGACATGTGGTCCCTGGGTGTCATCATGTACATCCTGTGAGTACCTTCCCCACCCCCTGCCTCCATCTCCTGCCCTTACCCCCACTGTGAGCCCTCAGGACCACTTCTGTCCCCCCACCCCCATGTCCTTGGTGAGGAGCTTGTGTGTGTCACTCCTCATGCAGGCTGCCCTTCCCTTTTGGTCATGGGACACCACTCCTTCAGGTGCCTGAGGGTCTCCCCATGCCAAGGGCTGATGGCATTCCTGGGATGTGCCTGGGAGTCCGGAGGGCTGGTATTATTGCTATGGTGTCTGGTTGTCTGTCTCCCCAGTCAGGGGCTTTTGAGGGGAAATGGGTCCACCCTGGCACTGCTCCCACCCTATGCCAAATGACTTACCCCTTCCCCCAGCCTTTGTGGCTTCCCACCCTTCTACTCCAACACGGGCCAGGCCATCTCCCCGGGGATGAAGAGGAGGATTCGCCTGGGCCAGTACGGCTTCCCCAATCCTGAGTGGTCAGAAGTCTCTGAGGATGGTGAGTGAACCTCTCTGTCCCAGCCTGACTCACCTGGCCCCTGCGGCTTTCATTCTGGGAAACATCACTTTGGTGTCAAACTGACCTGTGTTCAAATCTTGGCTCCCCCTCTTTCCAGCTATGGGACCCTAGGCAAGTCCCCTAACCTTCTTGAGCCTCAGTTTCTACATCTGCCAAACAGGCTCAAAACTTGCCTCCTCAAAAC
TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAGAAAAACATTAAGTGACTTGCCCAGGGGCTGTGTAGTTGCTGCACTGGGATTCATTCATTCATTTGTTTACTTGTTCAGCAAGAAATTTTGTGTGGATGCAATGTGCCAGGCCTCAGGCAGGGGCTGCCTGATGCTGTTGGTTTTTTTTGTTTTGTTTTATTTTGTTCTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCTTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTAGGCAGGTTGGTCTTGAACTCCTGACCTTAGGTAATCCGCCCGCCTCGGCCTCGAAAAGTGCTGGGATTACAGGCGTGAGCCATTCCACCTGGCCCTGTTGCGGCTTTTGTGAAGTCACAGCCATAGCTTTGACAGATCAGGCCCCCTGATACCAGCATTTTAAGGGAAAGAAGCCATTTGCTGAGCCCTGGAGGAAGGAACAGAGGTAGTGCCAGTTGTTGGGCCACCTTCCAGTCTTGAGGCTGGAAGCTCAGCTCTCCAAATTTCCTATCCTGGGAGGACTGGGTCTTAGAGGTCATCTGGATCAGATGGATGAAATGCAAACCAAGGCAGCACACACATGCATGTGCACACAAGCATGTGTGAGCACTATCAGAGCAGAGTCTGCTCCTCCTGGGCCCTCTGCCCCAAGCCTAGAACGTTACCTTCCTTGGCTTATTTCCTCCTCAGACTGGGCAGAGGCGAGCTGAGGTTACAGCTGCTGCATAAGGTCCTCCCTCTGGCTGAGCACCCCAACCTGTAAATCCTTGCTTTATTTGGACCCTGGCTTTTTTTTCCCGAAGAGAGAAAAGCCTTCTGCAGAGGAGATTCCCTTGAATAGACTAAAACTGCTTCTCTGTTTTTATCACAATTGAGAAGGTCAGATCTTCTCAAATGGAACCTGAGAAATAGCATCCATTGGTTCTAAACCACCACCCCATCCTTCTACCAACACCCCATCCTTCTACCCCGGCTCTGCTTGGGGGTCTCTTCTGCCCCTCTCCATGGGCCTACATCCTACCTACCATTCATTAAAAACCAGTTTCAGGGACAGACCTCCCTACTGCCCTCATCTGCCAGGCCCCTGGCTACTCCTGGGACACAGGAAGATTGCCCCTGTGCAGCTCCTGGGGTCTGGGGTCTGAGCAACCAGGGCCTTCTCCCCTGAGCAACCTCAGATGGGGCTGTCCTTCTAGCCCTGTAGGATTCACTCTGGGCTGGGTATGGGACATGTGCTTGGCAATACTGACTTATGAGCAGCCTGCCTTCCCCCAGCACCCTTGCTCTAGCATTTCATGGCAATGTCACCAACTCAGGATCAGAAGTTCCTGCTCCGAGGCTTTCTATGGCACTTGGTCATTCACAGCCTTGGCTGAGCACCTGCCTTGCTTCCCCTTTTGTGAATGAAGGTAGCACCTTGGGTTTCTCTATATTTGGCCCATGTTAGTGGGCAAGGCCCGGGTCTTTTTATAAATGGACCTGGCTCCTTCTGCACTGGGATGGAGTCGGGGAGTCTGGCTGAAGATCACCTTGGGGCTCTGCTCCTGCCTGGTTCCTAACTCCAAACCAATGTTTTCTCTTTCTGGCCCAGCCTGAAAACCTACCCTACACATCTAAGGAGAAAGACGCAGTGCTTAAGCTCACCGATTTTGGCTTTGCTAAGGAGACCACCCAAAATGCCCTGCAGACACCCTGCTATACTCCCTATTATGTGGGTGAGTCCTTCGGACATGAGTTGTAACTCCTCACCCCAACTTATACAGCTGTATTATGGGGTAGCCAGTGGGTTGCAGAAACCAAAGGGTTAAAGCCCAGCAAGGAGGGAGGGGGAGAATTCTGTCTGCATGGAGGCGGGTGACGTGGGGGGCCGGAGGCTGCAAAAATATTCTCCCAAACTTCAGCTTCTGCTTTTGAAAATAGATCCAGGAAAATTCTGGCTGTGGCCTGTGAGCTGAATGACATCACAGCAGCTCTAAATATATATGTGATAAAAGGCTGCCATCAGCTTGGGACGGAGCCCAACCGCGGTTGTTTTTCTCTAGTTTTTGTCTTCCTGGGATTCATATTCAGAAAGTGGGCATGCATTTCCTCCTAACTTGGAGGGACAAAGGGTACCAGTCACCTGCCTTGTGGGAGACGGTCACTAAAGCCAGGGCTTGGAGGTGTGCACATACTCATGCTTCCTGGAAAAGTTCACTGCCCTTCTGCAAGTGGGCAACCCCCGGATCTGAAAATGTTCCTTGCCAAAACTGCCCCCTAACCTGAGAGTGGGGTGATGACAGAGGGCTTTTCTCCCTCAGAAGAGGTCTTCCTGGAGGGCTGCTGAAGGGGTGGGAAGTTCCCTGAGACAGTTGAAATGGCACTCTGTTAACTAGGATGTGTTTTGCACTAAGTATTTTAACTTAGAAATCTTCTAGCCTACCCACCTCATTGCACAGGGAAGACAAAGGCTCCATGGATTGGTAGCCAAGCTGATGATGGAATGCAGAGCCCTGTCCCTGGTTCTTCCTTGCCTGTGACCTAGGCTATGCATTCAGGGAGGCAAGGGACACAGGACAGCTGGCAGGCCAAGACCCTCTCACCTACGGTAGCTTCCCACCAAGCCCCAGACTGGCCTTCTCTTCTCTTCTTTCACCAAGGTTGAGACTGGTAGAGGGGCTCAGGCCCAAGGGAGCTAGGGGTATGTCTGAAAGTGGTTGATTTTTTTCCAGGAGCTTTCTCCTCCCCCAACTTCACACACATGCTGCCTTTCCAAAAGGTGCCAGACGCCAGTCTGCTCTGCCCTACCTCCCAGCCCAGGTACCTGCTCCCCACCTTGCCCAGGCTTTAGGCTCCTGCCTGGGCTCCAAGACCCTTGGGTCTGAGAGCCCTGCTGTCCCTCTGCCCTGGCAGCCCCTGAGGTCCTGGGTCCAGAGAAGTATGACAAGTCATGTGACATGTGGTCCCTGGGTGTCATCATGTACATCCTGTGAGTACCTTCCCCACCCCCTGCCTCCATCTCCTGCCCTTACCCCCACTGTGAGCCCTCAGGACCACTTCTGTCCCCCCACCCCCATGTCCTTGGTGAGGAGCTTGTGTGTGTCACTCCTCATGCAGGCTGCCCTTCCCTTTTGGTCATGGGACACCACTCCTTCAGGTGCCTGAGGGTCTCCCCATGCCAAGGGCTGATGGCATTCCTGGGATGTGCCTGGGAGTCCGGAGGGCTGGTATTATTGCTATGGTGTCTGGTTGTCTGTCTCCCCAGTCAGGGGCTTTTGAGGGGAAATGGGTCCACCCTGGCACTGCTCCCACCCTATGCCAAATGACTTACCCCTTCCCCCAGCCTTTGTGGCTTCCCACCCTTCTACTCCAACACGGGCCAGGCCATCTCCCCGGGGATGAAGAGGAGGATTCGCCTGGGCCAGTACGGCTTCCCCAATCCTGAGTGGTCAGAAGTCTCTGAGGATGGTGAGTGAACCTCTCTGTCCCAGCCTGACTCACCTGGCCCCTGCGGCTTTCATTCTGGGAAACATCACTTTGGTGTCAAACTGACCTGTGTTCAAATCTTGGCTCCCCCTCTTTCCAGCTATGGGACCCTAGGCAAGTCCCCTAACCTTCTTGAGCCTCAGTTTCTACATCTGCCAAACAGGCTCAAAACTTGCCTCCTCAAAAC
Task1_train_7062
Consider this mutation in ABHD14A-ACY1, ACY1 (ABHD14A-ACY1 readthrough| aminoacylase 1) on Chromosome 3. Is this a benign change or a disease-causing variant?
Pathogenic; Aminoacylase 1 deficiency
GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCCACCTTCCTTTGCCCCTTCAATTCTTCGCTTTCTCCCTCCCCATTCATCAGGCTCTTTCTCCTACAGGAACCTCACTCTGGAGCCTGAGATCATGCCTGCTGCCACTGACAACCGCTATATCCGCGCGGTGAGCCACTTGCATATAGTGCCTGGGCAGTGGACTGGGCCTGAGTGCTGGCTTTTCCCTAACGGCTCTTCCTCACCCCTGCAGGTGGGGGTCCCAGCTCTAGGCTTCTCACCCATGAACCGCACACCTGTGCTGCTGCACGACCACGATGAACGGCTGCATGAGGCTGTGTTCCTCCGTGGGGTGGACATATATACACGCCTGCTGCCTGCCC
GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCCACCTTCCTTTGCCCCTTCAATTCTTCGCTTTCTCCCTCCCCATTCATCAGGCTCTTTCTCCTACAGGAACCTCACTCTGGAGCCTGAGATCATGCCTGCTGCCACTGACAACCGCTATATCCGCGCGGTGAGCCACTTGCATATAGTGCCTGGGCAGTGGACTGGGCCTGAGTGCTGGCTTTTCCCTAACGGCTCTTCCTCACCCCTGCAGGTGGGGGTCCCAGCTCTAGGCTTCTCACCCATGAACCGCACACCTGTGCTGCTGCACGACCACGATGAACGGCTGCATGAGGCTGTGTTCCTCCGTGGGGTGGACATATATACACGCCTGCTGCCTGCCC
Task1_train_7063
This variant affects gene POC1A (POC1 centriolar protein A) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACCATCCTGGGCCTGGCCCCTAGCTAAGTCAACCCTCCCTATGACTCTACATCTGCGGAGGACACTGTAAGACCAGAGGTGGCCACGGTCCCACCAATGCTGGCCTCTACTGACAGCCCTGTTCCCTTTACCACAGGTCAAGGGCTGTCACCTTGGCCCTGGAGGGCAGAGCCTCCATCACCAGGAAAGGCAAGTGGCATGCCCCTGAGAAGTGGTCCTCAAGGGAAGCCCTGACCAGAGCCCCAGTGAGGACTCCCCATCTGGCCCTGCAGTATGTGTGAGATTCTGCCACTTCGGAGGTGAGCATTGACTGGCTCAGTGGAAGCCAGGTAGCACCAGGCTCCATCTCCTGGCCAAGGTTCCAAGCCAGGCCAGCCATGCCACAGACTCCCACCCCTGGAATCCCAACAAACCCAGGACACCTTCCTGCCCAAGGCCATCTCAGACCCATTTAAGCACTACAGCACAGGACAACATCCAACACCATCACAGTCCCACCAGGGCTGCCCTTGGGCCCAGGAGGCTGTTCACCACTCACACTGATAATGCTGCAGCAGCCGGTGAGTCCGCACGTCCCACACCTTCACTGTGTTGTCCATGCCGGCAGCGGCAATGCACGTCCCACTGGGGTGGAAGTCCACATAGGTGACAAAGCTGGAAAGACAGGGGCCACTATGCACTATAGGAGGTCTGCCCTGGTTCAGGACGGACCCAGAAACATTTGGTGCTTTCCCCATCCCTGTGTCCTGCCCACGCTGTTCCCTTGACCCAGACACCTCCTTTCTGTCACACTTGTTTACCAGGTGGCCAAGGGAGAGCAAGAAGAAGTAAAAGGTGAGAACAGTGGCCAGCAACAAACTAAGGTGGACTGACCAGGGAGCACATCCCACCGCCAATTTTCAATACAAGTTGAGAGAGCTATCTTCAAACCCAAAAGTTAGCCAGGCTCCCCTGGGATTTTCAAAGTTGGAGCTGGTACCCTTCCCAGGGGTGGCTGCAGGGCAGATCCTGCCAGCTGAGGCACAGGTGGGAAGGTCCAGCAGGACTACAGGGCCATTGGCCCACCCCTTTCTAGGAGACAGGCCAAGGACCCTCACCACACCCATATGTGATACCCAGGCTGGTACCATGTCCACCTCTCAAGGAGAAGCCCTTGTGGCTCCCAGCCCAACAAAGAAGGGCAGAAGCTGGGGTCTCTACTCAAATGTAGGCACCTCTCTCTCCTGATGATGTGGCACAATATGAACAGCCACCATCTGCTACAAGAACCCAACAAGAATTTTGTAAAGCCATCATCATGGATAACATACCAAGAGGCTTTAAAATGTAGTTTGGGCGACTGAGTGTCAACTGCTGCCAGACAGACATGTTGTAATCCTGACAACCAGAAAGTGAAGGAGAAAAAGAGGAGCACAAATAATTACACAGCTCCAAAGAATTGCATGGCTTGAGGTTAAGCACTCCTGCTATTTGTGGGATGGGGCCAAAGCTTCCATCCACACAGCAAAAGATACAATGCTAGGTTGCCAGACCTCGCAAAAAGCACCAGACAAGGGGCAGCAGTGATAAGGCTGCTGGTCCCACGGCTCCAGCCACTGAAGGCCACTGGGCCTCCTCATGCCCAGGTCTGTGCTCTGTGCTTGAGCGCCTACAGGTGGAGGACAGCATCTGGGGACTCACCCGCCATGCTCACAATACGAGTGGACACATTCCCGGCTGCTCTTGTCCCACAGCTTAACAGTCTTGTCATCACTGGCAGACACGATGAGCCGCCCGTCGGGGGAGAACCTGAACCGGGTGGGGCACAAGTCACATCACAGACTAACAGACGACATGGGCACCACACACCTTCTTCCACAGCCACTCTTCCCCGAGTGCCTACTATCTGCCTGCAGGAACCACCCGGGGTCACATGCCCTGCTGTGATTTTTTTTTTTTTAATTTGAATACCCTAATTTGTCTTTTCAGGAACAAATGCATTGCATCCTAGGAGGCAATGTTACTTCTGTTTATTTGGTCATATCTTAAATTATACTTTGTTTCTGAAAATAGTTAACTTTTAGCACATCATTTTTCTTTTTTCCTTCTGAAGAGTTTTTCAGGAAACTGTGACTAAATTTTGTTTTTGTTTTTGTTTTGTTTTTTAGACAGGGTATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGAGATCCTCCCACCTAAGCCTCCTGAGCAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTATTTTATTTTATTTTATTGTAGAGATGGGAGTCTCACTATGTTGCCCAGGCTGGTCCTCTAACTCCTGGAGTCAAAGGATCCTCCCACCTCATCCACCCAAAGTGCTAGGATTACAGACATGCACCTTCAAGCTCGGCCTATGACTTAATTTTAAATGTTATAAAAATGTTTCCTTTATTTTTTTCTTCCTGAATCTGTGAAACTTATTGATCTTTCCTGTTGCTCTTGTTTTCGTTTTCTTACGTAGCTTCATGAGCAAATAGCCCCTCTCCCATCCCAACAGCAAACTCTGACCAAAAGGGAAAAAGAGAAATTCTTCCTGACTTAGAGGAAAACCAAACATAAATAAACAAAAAGAAAAGAAAAAAAAAAAGGTGCCTGCCTCACGAGTGAGCACAGAGCAGCCTCATGCACATAAAGCCCCAGCACTGCCCCTGACGCACAGCACATGGCAACATGCAGCCGACTGCCTGCCGGCAACATTTGCATAAAGGTGGCCAAAAGCTCACCATCAGTGTCATTACTCTGGGACCAGGTCCTCCGAGTCTACATTTGACTCAAGTGCGGGTCAGCAAGACACAATCTGCCAACAAAAGGCATGAGGTCCTGGGGACTGCCACCAAAGGCCCAGTATGGACTTGACACCCCAGTTTGCTGGCCTGGCCCCTCCTGATCTCAGGACCCTAGTCATAAAGCCTCTAAGAGCCATCAGGGGTCTCCCAGGACAAAGGAATGGGGGTGCCCTGGAGAACAGTAACTTGTATGGGGTCCCCAGAAGAACACAGCTCAATAGTCCCCAACTTCTGACTCATGTGGTTTCCTAATGTCACCTGGCACCCCAACCCCTTCCTCTGAAGCAAAGATATTTGACCCATGGGGAAGCTCTGTTGAAAGGAATGAAATAAGCTAGAAGTAGGACTATCTGTCTGCAATTCTTGGACCTTGAAAGGTCCTTTGGGTTACCTGGCCCGCTGTCTGCACAGCACTGGCTCCCTGGCCAGCAGGAAGGCTAGCCTCCAGGCTAAGCCCCCCATCTCCGAAGCCTGCGCCCCCATCTGGGAGCTCTGGAGCAAAATCATCCCCTGAGAACATCCCAGAGGAAAGTAGGCAAGCCTTACTGTCAGAGAGAGTTGGGTTCAAACTCCAGCTCTGCCACAGACCCACCGTGTGCTCTGGGACAAGATACTACTGTTCTGAGCCCCCATTTCCTCATCTGCAAAATGGAAATGCACCTAGCTTGCAGAACTGTCTTAAGGAACAAAAAGAAAATGTGTAATGGTAGTACTGAAAGTACCTAATTGTTTTTGATAATAAATGGCCCCTGTTGACCCAGTTTGTGCTTTGCCAACACAGATGTCAGAGGGTCATCATGGCTGACTATGGACTAACTTACATGTCATGCATCAGCTCCATGAAGCTTCTCGACAACTTACAATGCAGGAGCTATTATTGTTCCATTTTACAGATAAGGAAACCGAGGC
CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACCATCCTGGGCCTGGCCCCTAGCTAAGTCAACCCTCCCTATGACTCTACATCTGCGGAGGACACTGTAAGACCAGAGGTGGCCACGGTCCCACCAATGCTGGCCTCTACTGACAGCCCTGTTCCCTTTACCACAGGTCAAGGGCTGTCACCTTGGCCCTGGAGGGCAGAGCCTCCATCACCAGGAAAGGCAAGTGGCATGCCCCTGAGAAGTGGTCCTCAAGGGAAGCCCTGACCAGAGCCCCAGTGAGGACTCCCCATCTGGCCCTGCAGTATGTGTGAGATTCTGCCACTTCGGAGGTGAGCATTGACTGGCTCAGTGGAAGCCAGGTAGCACCAGGCTCCATCTCCTGGCCAAGGTTCCAAGCCAGGCCAGCCATGCCACAGACTCCCACCCCTGGAATCCCAACAAACCCAGGACACCTTCCTGCCCAAGGCCATCTCAGACCCATTTAAGCACTACAGCACAGGACAACATCCAACACCATCACAGTCCCACCAGGGCTGCCCTTGGGCCCAGGAGGCTGTTCACCACTCACACTGATAATGCTGCAGCAGCCGGTGAGTCCGCACGTCCCACACCTTCACTGTGTTGTCCATGCCGGCAGCGGCAATGCACGTCCCACTGGGGTGGAAGTCCACATAGGTGACAAAGCTGGAAAGACAGGGGCCACTATGCACTATAGGAGGTCTGCCCTGGTTCAGGACGGACCCAGAAACATTTGGTGCTTTCCCCATCCCTGTGTCCTGCCCACGCTGTTCCCTTGACCCAGACACCTCCTTTCTGTCACACTTGTTTACCAGGTGGCCAAGGGAGAGCAAGAAGAAGTAAAAGGTGAGAACAGTGGCCAGCAACAAACTAAGGTGGACTGACCAGGGAGCACATCCCACCGCCAATTTTCAATACAAGTTGAGAGAGCTATCTTCAAACCCAAAAGTTAGCCAGGCTCCCCTGGGATTTTCAAAGTTGGAGCTGGTACCCTTCCCAGGGGTGGCTGCAGGGCAGATCCTGCCAGCTGAGGCACAGGTGGGAAGGTCCAGCAGGACTACAGGGCCATTGGCCCACCCCTTTCTAGGAGACAGGCCAAGGACCCTCACCACACCCATATGTGATACCCAGGCTGGTACCATGTCCACCTCTCAAGGAGAAGCCCTTGTGGCTCCCAGCCCAACAAAGAAGGGCAGAAGCTGGGGTCTCTACTCAAATGTAGGCACCTCTCTCTCCTGATGATGTGGCACAATATGAACAGCCACCATCTGCTACAAGAACCCAACAAGAATTTTGTAAAGCCATCATCATGGATAACATACCAAGAGGCTTTAAAATGTAGTTTGGGCGACTGAGTGTCAACTGCTGCCAGACAGACATGTTGTAATCCTGACAACCAGAAAGTGAAGGAGAAAAAGAGGAGCACAAATAATTACACAGCTCCAAAGAATTGCATGGCTTGAGGTTAAGCACTCCTGCTATTTGTGGGATGGGGCCAAAGCTTCCATCCACACAGCAAAAGATACAATGCTAGGTTGCCAGACCTCGCAAAAAGCACCAGACAAGGGGCAGCAGTGATAAGGCTGCTGGTCCCACGGCTCCAGCCACTGAAGGCCACTGGGCCTCCTCATGCCCAGGTCTGTGCTCTGTGCTTGAGCGCCTACAGGTGGAGGACAGCATCTGGGGACTCACCCGCCATGCTCACAATACGAGTGGACACATTCCCGGCTGCTCTTGTCCCACGGCTTAACAGTCTTGTCATCACTGGCAGACACGATGAGCCGCCCGTCGGGGGAGAACCTGAACCGGGTGGGGCACAAGTCACATCACAGACTAACAGACGACATGGGCACCACACACCTTCTTCCACAGCCACTCTTCCCCGAGTGCCTACTATCTGCCTGCAGGAACCACCCGGGGTCACATGCCCTGCTGTGATTTTTTTTTTTTTAATTTGAATACCCTAATTTGTCTTTTCAGGAACAAATGCATTGCATCCTAGGAGGCAATGTTACTTCTGTTTATTTGGTCATATCTTAAATTATACTTTGTTTCTGAAAATAGTTAACTTTTAGCACATCATTTTTCTTTTTTCCTTCTGAAGAGTTTTTCAGGAAACTGTGACTAAATTTTGTTTTTGTTTTTGTTTTGTTTTTTAGACAGGGTATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGAGATCCTCCCACCTAAGCCTCCTGAGCAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTATTTTATTTTATTTTATTGTAGAGATGGGAGTCTCACTATGTTGCCCAGGCTGGTCCTCTAACTCCTGGAGTCAAAGGATCCTCCCACCTCATCCACCCAAAGTGCTAGGATTACAGACATGCACCTTCAAGCTCGGCCTATGACTTAATTTTAAATGTTATAAAAATGTTTCCTTTATTTTTTTCTTCCTGAATCTGTGAAACTTATTGATCTTTCCTGTTGCTCTTGTTTTCGTTTTCTTACGTAGCTTCATGAGCAAATAGCCCCTCTCCCATCCCAACAGCAAACTCTGACCAAAAGGGAAAAAGAGAAATTCTTCCTGACTTAGAGGAAAACCAAACATAAATAAACAAAAAGAAAAGAAAAAAAAAAAGGTGCCTGCCTCACGAGTGAGCACAGAGCAGCCTCATGCACATAAAGCCCCAGCACTGCCCCTGACGCACAGCACATGGCAACATGCAGCCGACTGCCTGCCGGCAACATTTGCATAAAGGTGGCCAAAAGCTCACCATCAGTGTCATTACTCTGGGACCAGGTCCTCCGAGTCTACATTTGACTCAAGTGCGGGTCAGCAAGACACAATCTGCCAACAAAAGGCATGAGGTCCTGGGGACTGCCACCAAAGGCCCAGTATGGACTTGACACCCCAGTTTGCTGGCCTGGCCCCTCCTGATCTCAGGACCCTAGTCATAAAGCCTCTAAGAGCCATCAGGGGTCTCCCAGGACAAAGGAATGGGGGTGCCCTGGAGAACAGTAACTTGTATGGGGTCCCCAGAAGAACACAGCTCAATAGTCCCCAACTTCTGACTCATGTGGTTTCCTAATGTCACCTGGCACCCCAACCCCTTCCTCTGAAGCAAAGATATTTGACCCATGGGGAAGCTCTGTTGAAAGGAATGAAATAAGCTAGAAGTAGGACTATCTGTCTGCAATTCTTGGACCTTGAAAGGTCCTTTGGGTTACCTGGCCCGCTGTCTGCACAGCACTGGCTCCCTGGCCAGCAGGAAGGCTAGCCTCCAGGCTAAGCCCCCCATCTCCGAAGCCTGCGCCCCCATCTGGGAGCTCTGGAGCAAAATCATCCCCTGAGAACATCCCAGAGGAAAGTAGGCAAGCCTTACTGTCAGAGAGAGTTGGGTTCAAACTCCAGCTCTGCCACAGACCCACCGTGTGCTCTGGGACAAGATACTACTGTTCTGAGCCCCCATTTCCTCATCTGCAAAATGGAAATGCACCTAGCTTGCAGAACTGTCTTAAGGAACAAAAAGAAAATGTGTAATGGTAGTACTGAAAGTACCTAATTGTTTTTGATAATAAATGGCCCCTGTTGACCCAGTTTGTGCTTTGCCAACACAGATGTCAGAGGGTCATCATGGCTGACTATGGACTAACTTACATGTCATGCATCAGCTCCATGAAGCTTCTCGACAACTTACAATGCAGGAGCTATTATTGTTCCATTTTACAGATAAGGAAACCGAGGC
Task1_train_7064
The gene POC1A (POC1 centriolar protein A), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGACCCAGCAATTCTAGGTAAATACCCCAAAGAGTTGAAAACATGGTTTACACAAAAACTTGTACACAAATGTTCAGAGCAGCATTTTCCTTAATAGCCAACAAGTGATTGAACCCAAATGATCCATCAACACATGACTGAATAAACCAAATGTAGCATATTCATACAACAGAATATTATTCAGCCATAAAACCGACTGAAGTGCTGATGCTTGCTGCAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGTCAAACACCAAAGGCCACATTTTGTCTGATTCCATTCATATGAAAAGTTCAGAATAGTCAAATCTATAGAGACAGAAAGTATTAATATATTAGTTTGCCAAGGGTTGGGAGAAAATGGGGAAAGAGAAGAAATGGTATGACTGTTATTGAGTATGGAGTTTCTTTTTGGGATGATGAAAATATTCTGGAATTAGTGATTACAGTTGCACAACACTGTGAATGTACTAAAAACTACTGAAATGTACACTTTAAAAGGTGAATTCTGTGGTGTATGAATAACTTAATAAAGTTAAAACACCAGAGAGAATACTCCGGAGACTCTCTCCATCCAATAGCAGCTTGTGTCTTAACACTTGAAGGGTTATAATTCAGCCATCCAAACATCTCCCCCTACTCTAAGTATCAGAAACCTCAAAGAAGCATTTTGGGTGCTCCAGGAAGCCCAAAGGCTCCTCCTGGGAAAGGATGTCCTTGGGGCACAGCAAAGCCACTGCCACCCTACAGAGCAGTAACCAGAACAAAGGCCCTATGGCCTTGTGCCCAGCTCCACCCCTAACGCACCTGTCAGAGTCTCCTTTCAACAACAGAGGGAGGAGCAGCTGGGGGAGGGTCCCCAACAGAGCCTTCTGCTCTCACCTAAGCTTCTTGAAAGAACATGCGTAAGAGAGTGTCCGCCCCTAGGCTCAGTGGGCAGAGGCAAGTTCAGGTCCACCCCTGACCAGTAGGTCCCATGGTATCTCTCAACACCGCCTCCCCTCTGTAGTTCCCTGCATGTGGGCCTCATCTCCCTCAACAGTGGTTTATACATGAGGGGACAGGAAGGGAGGTAGAGTACCAGATTAGGAGTCAAAAGGTCTGTATCCTAGCCTGGAATCTCCGTCCATGTCCTCAAGTGCCTCAGGGCATCACAGGCTACCACCCAGCCTCCCTGACTCTCCAATCAGCCAGAGGGCCTTGCCCGTTCAAAGGAATCTCTCGAAATGAGGACTTCTGGAGGAATGTGAACTCAGAGAGGGCGGCTCCGCCCCGCTCACACTGCAGGCCCGGGCATCCCAGCGTCCTGCTGTACCTACCTGCTGGAGCAGGGTGTACCCTCAACAAGACCCCACGCAGCCACCCACTGCTAAGGACGTGGAGAATGGCTAGAGAGGCCCGATACCGGCCCCAGGTCACACATGAGTCGGGACTTGGTCGTGTGTCCCTCGCTAGGATGCAAACTATGGAGGCAGAGGCCTGTTTGTTCGCTCCAGAAACCCAGCGCAGGGCCTGGCACGCAGGAGGCGCTCAGAAAGTGCCCGACCCAGCGCCCCCTGCGCAGACAGTAAACTGGACCTGAAGAGGACCACCCTGGAACCTGGCGCCCCGCCCGCCCCTCGCAGCCATCGCTCTGGCCATTAGGCGCCCAGTGTCCCAGCGGGGAGACTGAGGCCTGGGGAGTTGCTCTCGGCTGGGCTTACCGCGCAGGGCGCAGCCATGGCGGGGCTGGCGGCGCCGAAGGCAGCTGCGGTGGCCGTTGCGGCCCGTTCAGTTTCCGCGCCCCCAACGGCCACCAATAGCAACGCGGGCCGCGTCGGCACGCCCCGCCCACCGCAATTAAAGGAGAAGCGCCTCAGCTTTTTGCCCGACGACTGGAAGCAGAGCTGTATGACCGGCGGCCGGCGCCACGGTCTCCGTGCCCAGTTCCCCAAGCCCAGACAACCCACAGACAGCGCAGCCAAAAGCCTCTGTCCGCCGCCACTCGTTCCGCCTGAGAAATTAAAAGACCCAGGATGAAGGGTTCACCCCACCAGCCCGTCGTCCGGCTACTCTAACGGCGAGCGCAGCCTCCTGGGAAATGCAGTTCCAAGCCGCCCACGCCCCTATGTCTGGAGGAAGGTGGAGCTACACTTCCCAACATGAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGGGCGGGCCGGGTTTTACCACCCGAAGCGACGGCCTTAAGGATCCCGGAAGCGGAGGACACGTGGGTTGCTGTAACCAGATTGCGTTAAAGCACCCGCGCGCGCCGGCGCAGCCAGATTTTCCCCGCAGGAACCTATTGAGAGCTGAGTATTCGCCCCTCGGGAACTCTCAGTGGTTCGCCGTCCGAACGTTCTTAAGACAAGTGTCGATTTAAAATAACATGAGTTACTCGGAATCACAATCATGGAGTGGAGAGATCAAGGTTCGATTCTCAGTTCTCGCCCTGATTGGCTGTGTGATCTCAGGAAAAACGCCTCTGCTCTGTGCCCCGGTTTCCCCATTTGTAACACGAGGGAGTGTGGTGCAGCCCGGCCCTGTCAGGATCCTTAAGGCCTCAGAAGCTGTTAGAAACCCAGTCTTTAAAAGAAGGAGAGGCCGGGCTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGCCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTATGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAAACCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGTTCGAACTCCGGAGGCAGAGATTGCAGTGAGCCTAGATGTTGCCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCGTCTCAAAAAATATATATATATATAAAATAAAATTTGAAGGCCACCAGCAACCATCTGAATAGACTCCCTGCTTGGCCAGGGCACTCAAATTTAACCTGAAAGAGTGGTTCAGGCCATGATGGGAAGTGGGGGTTGGACATGCCTCATTATACCCTCCAGCATTAACATCAACAAAAACCTTAAGTCTGATAAGAAACATTTACGATCTATTTTCTCTGAAACCTGCTACCTGGAGGCTTCATCTGCATGGTAAAACCTTGGTCTCCATAACCCCTTATCTTAACCGAGATATCCCTTTCTACTGATAATAATTATTTCAACCAATTGCCAATCAGAATATGTTTAAATCTACCAATGACCTGGAAGTTTCCCACTTCGAGTTGTCTTGTCCTTCCAGATCAAACCAATGTAAATCTTACATGTATTGATTGATGTATTTTGTCTCCCTAAAATGTATAAAACCATGCTGTGCCCAGGCCACTTGGGCACATGTTGTCAGGACCTCCTGAGGCTGTGTCATGGGTGTGTCCTTAACCTTAGCAAAATAAATTTTCTAAGTTGACTGAGACCTGTCTCAGGTATTTCGGGTTGACAGTTTGGCAACCACGAAAGGATTCTGAGTGGAGGTGCCCCTGACCTTTGACAGATCTCCTATCGGTGCTTGGTACCAGCTTGAGCTATCTTTATGGCTCAAATCTACAGGACAATTTGCTAAGGCCTGGGAGCCCCCCTCCACAAAATTCCTGATCTTCCCAAATTTGGTTAACATCTAAAGTTTATTTTACTGTACAACTCCTTTTTCTGGAGTTTTACTTGTTTCCAACAAGGAAGGCAGGTTTTCCTGCTTCCCTGACGATGGAAGGCAGGTA
CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGACCCAGCAATTCTAGGTAAATACCCCAAAGAGTTGAAAACATGGTTTACACAAAAACTTGTACACAAATGTTCAGAGCAGCATTTTCCTTAATAGCCAACAAGTGATTGAACCCAAATGATCCATCAACACATGACTGAATAAACCAAATGTAGCATATTCATACAACAGAATATTATTCAGCCATAAAACCGACTGAAGTGCTGATGCTTGCTGCAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGTCAAACACCAAAGGCCACATTTTGTCTGATTCCATTCATATGAAAAGTTCAGAATAGTCAAATCTATAGAGACAGAAAGTATTAATATATTAGTTTGCCAAGGGTTGGGAGAAAATGGGGAAAGAGAAGAAATGGTATGACTGTTATTGAGTATGGAGTTTCTTTTTGGGATGATGAAAATATTCTGGAATTAGTGATTACAGTTGCACAACACTGTGAATGTACTAAAAACTACTGAAATGTACACTTTAAAAGGTGAATTCTGTGGTGTATGAATAACTTAATAAAGTTAAAACACCAGAGAGAATACTCCGGAGACTCTCTCCATCCAATAGCAGCTTGTGTCTTAACACTTGAAGGGTTATAATTCAGCCATCCAAACATCTCCCCCTACTCTAAGTATCAGAAACCTCAAAGAAGCATTTTGGGTGCTCCAGGAAGCCCAAAGGCTCCTCCTGGGAAAGGATGTCCTTGGGGCACAGCAAAGCCACTGCCACCCTACAGAGCAGTAACCAGAACAAAGGCCCTATGGCCTTGTGCCCAGCTCCACCCCTAACGCACCTGTCAGAGTCTCCTTTCAACAACAGAGGGAGGAGCAGCTGGGGGAGGGTCCCCAACAGAGCCTTCTGCTCTCACCTAAGCTTCTTGAAAGAACATGCGTAAGAGAGTGTCCGCCCCTAGGCTCAGTGGGCAGAGGCAAGTTCAGGTCCACCCCTGACCAGTAGGTCCCATGGTATCTCTCAACACCGCCTCCCCTCTGTAGTTCCCTGCATGTGGGCCTCATCTCCCTCAACAGTGGTTTATACATGAGGGGACAGGAAGGGAGGTAGAGTACCAGATTAGGAGTCAAAAGGTCTGTATCCTAGCCTGGAATCTCCGTCCATGTCCTCAAGTGCCTCAGGGCATCACAGGCTACCACCCAGCCTCCCTGACTCTCCAATCAGCCAGAGGGCCTTGCCCGTTCAAAGGAATCTCTCGAAATGAGGACTTCTGGAGGAATGTGAACTCAGAGAGGGCGGCTCCGCCCCGCTCACACTGCAGGCCCGGGCATCCCAGCGTCCTGCTGTACCTACCTGCTGGAGCAGGGTGTACCCTCAACAAGACCCCACGCAGCCACCCACTGCTAAGGACGTGGAGAATGGCTAGAGAGGCCCGATACCGGCCCCAGGTCACACATGAGTCGGGACTTGGTCGTGTGTCCCTCGCTAGGATGCAAACTATGGAGGCAGAGGCCTGTTTGTTCGCTCCAGAAACCCAGCGCAGGGCCTGGCACGCAGGAGGCGCTCAGAAAGTGCCCGACCCAGCGCCCCCTGCGCAGACAGTAAACTGGACCTGAAGAGGACCACCCTGGAACCTGGCGCCCCGCCCGCCCCTCGCAGCCATCGCTCTGGCCATTAGGCGCCCAGTGTCCCAGCGGGGAGACTGAGGCCTGGGGAGTTGCTCTCGGCTGGGCTTACCGCGCAGGGCGCAGCCACGGCGGGGCTGGCGGCGCCGAAGGCAGCTGCGGTGGCCGTTGCGGCCCGTTCAGTTTCCGCGCCCCCAACGGCCACCAATAGCAACGCGGGCCGCGTCGGCACGCCCCGCCCACCGCAATTAAAGGAGAAGCGCCTCAGCTTTTTGCCCGACGACTGGAAGCAGAGCTGTATGACCGGCGGCCGGCGCCACGGTCTCCGTGCCCAGTTCCCCAAGCCCAGACAACCCACAGACAGCGCAGCCAAAAGCCTCTGTCCGCCGCCACTCGTTCCGCCTGAGAAATTAAAAGACCCAGGATGAAGGGTTCACCCCACCAGCCCGTCGTCCGGCTACTCTAACGGCGAGCGCAGCCTCCTGGGAAATGCAGTTCCAAGCCGCCCACGCCCCTATGTCTGGAGGAAGGTGGAGCTACACTTCCCAACATGAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGGGCGGGCCGGGTTTTACCACCCGAAGCGACGGCCTTAAGGATCCCGGAAGCGGAGGACACGTGGGTTGCTGTAACCAGATTGCGTTAAAGCACCCGCGCGCGCCGGCGCAGCCAGATTTTCCCCGCAGGAACCTATTGAGAGCTGAGTATTCGCCCCTCGGGAACTCTCAGTGGTTCGCCGTCCGAACGTTCTTAAGACAAGTGTCGATTTAAAATAACATGAGTTACTCGGAATCACAATCATGGAGTGGAGAGATCAAGGTTCGATTCTCAGTTCTCGCCCTGATTGGCTGTGTGATCTCAGGAAAAACGCCTCTGCTCTGTGCCCCGGTTTCCCCATTTGTAACACGAGGGAGTGTGGTGCAGCCCGGCCCTGTCAGGATCCTTAAGGCCTCAGAAGCTGTTAGAAACCCAGTCTTTAAAAGAAGGAGAGGCCGGGCTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGCCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTATGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAAACCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGTTCGAACTCCGGAGGCAGAGATTGCAGTGAGCCTAGATGTTGCCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCGTCTCAAAAAATATATATATATATAAAATAAAATTTGAAGGCCACCAGCAACCATCTGAATAGACTCCCTGCTTGGCCAGGGCACTCAAATTTAACCTGAAAGAGTGGTTCAGGCCATGATGGGAAGTGGGGGTTGGACATGCCTCATTATACCCTCCAGCATTAACATCAACAAAAACCTTAAGTCTGATAAGAAACATTTACGATCTATTTTCTCTGAAACCTGCTACCTGGAGGCTTCATCTGCATGGTAAAACCTTGGTCTCCATAACCCCTTATCTTAACCGAGATATCCCTTTCTACTGATAATAATTATTTCAACCAATTGCCAATCAGAATATGTTTAAATCTACCAATGACCTGGAAGTTTCCCACTTCGAGTTGTCTTGTCCTTCCAGATCAAACCAATGTAAATCTTACATGTATTGATTGATGTATTTTGTCTCCCTAAAATGTATAAAACCATGCTGTGCCCAGGCCACTTGGGCACATGTTGTCAGGACCTCCTGAGGCTGTGTCATGGGTGTGTCCTTAACCTTAGCAAAATAAATTTTCTAAGTTGACTGAGACCTGTCTCAGGTATTTCGGGTTGACAGTTTGGCAACCACGAAAGGATTCTGAGTGGAGGTGCCCCTGACCTTTGACAGATCTCCTATCGGTGCTTGGTACCAGCTTGAGCTATCTTTATGGCTCAAATCTACAGGACAATTTGCTAAGGCCTGGGAGCCCCCCTCCACAAAATTCCTGATCTTCCCAAATTTGGTTAACATCTAAAGTTTATTTTACTGTACAACTCCTTTTTCTGGAGTTTTACTTGTTTCCAACAAGGAAGGCAGGTTTTCCTGCTTCCCTGACGATGGAAGGCAGGTA
Task1_train_7065
This variant affects the gene DNAH1 (dynein axonemal heavy chain 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Spermatogenic failure 18
AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCAAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCCAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
Task1_train_7066
A variant on Chromosome 3 in gene DNAH1 (dynein axonemal heavy chain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Ciliary dyskinesia, primary, 37
AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCAAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCCAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
Task1_train_7067
This genomic variant is located on Chromosome 3, within the DNAH1 (dynein axonemal heavy chain 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Spermatogenic failure 18
AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGTCCACTACACATGCCGGGCCCATGATTCAGGGGCAGAACTGGCCCCTTAGTGGGCTGTGGGCCCCTCGAGGGAAGGGACCAGGCCGCATTCCCCTGTTTCCCCTAGTGCCTCCCAGGGCCTGGCACAGTCCTGACACTGCTGACTGTGACCCCCATCCCATGAGGAAGAAATGGATGAGTGCGTGAGTTTGCGCTGATGGGAGAAGACAAGAGATACATCCTGAATGGGGAATTTGGAGGCAGAAGGGGGAAATGGCTCATTTTGAAGATGTCTCACCCTTGGACTCATGTTTCAGAGAGTATTTTAGGACTCTCACACTCAAGACCCATTGAATCTCAGAGAATCCTGGGGTCATGGACCCAGAAGTCCTTCCAGGAAGGAGGCTGGTTTGTCTCCCAGGCACCGAGTGTTTCCTGTCACTGCAGGCTTTGCTGGCGTGGGTGTGTTCCTCCCTTTGGAAGAGCAGCTCCCCCGGCTCCTTTGGAGGCTTGGGCGTCCTGTGGGGATGTGGGACTTCTCTGGAGGGCAGGCATCCCTGTATCCTCTTTGTTCCCTGGAGTATCACAGATGACAGCACCATCTAGAAATCTCCCTGTAGACACTGGCTTTGGTGTCCAGTGCTCTGCCCAACATGCTGGTGGGGTGAAATGTCCCAGTCATTGGGACAAACCCCAGCTTGGACCCTGACAGTCCATATCACACCCCTCCCTGCCCCTCCCCTCCCCAGGAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAGGCAAGCTCAATGAGGGTGGGAGGGGCAGCTGGGATCCCCAAGGGCCCTGGTCACATTGCTGGTAGCCTCCTAGTCTCTTCCCTCCCTACACAGAAAAGGCTGGTGGACAAGCCTGAGGATTTGATCTTGAACCATGTCCTCCAGAGTGGGCTCCCCAGCCTCAGAGTTGCTCCTTAGAGGCACAGTCACTGACGGTTTTTCTCTTGGAGATCCACAGCCCATATTAACGTTTTTTTTTTGTTTGTCTGTTTTTTTTTTTTTGTTTTTTTTTTTGAAACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCCTGGTTCACCTCCCGGAGGCTGAGACAGGGTAATCCTGTCTTAGCCTACCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCGTGGCTGATTTTCTTTTGTATTTAGTGGAGCCGGGATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCACCATGCCCGGCCCATATTAGCATTTTAGAAGCTCTGACAAGTCCTGCAGCAAAGCAAACTCTTTAGCTTTGTTTAACTCTAACTTGTTTGACCGTAGAATTTTTTCTGTGGGGCTGATGGTTGCAGCCACTGGCTCAGGGAGAATTTTTCTGCATCTTCTTTCCCAGGCCCCGCTGAGGGGCTCTGGCTGGTGTGGGTGCTCTGGGATGAGCCTATCTTGCTACCTGGACCATGCTCACTGCCCATTTCTGTGCATGGCCCGGGCCCTGCAGGTGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAGGTGGGCGCCACCTGGCCATGCCCACTCCGCCACTGTCTGCCCACAAGGCTGAGGTGTCCAGGGCCCTGCTCAGGCTAGGGTGCGGGGATGTCAGCAGGACTGGGGCAGCTGGGGCCCAGGGAGCCTGCACGACCCGCTTCCTCACCCCTGTTCCCCTGGCAGATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGGGTGGGCAGCTGGGCCCGGGGCTCAGGGCTGGGAGCATGGGGCATCTTCCCAGGGAGAACGTCCCTCCCTTTGTGATGAGCCCTTTTAGCAGGAAATGTGGCAAATGACATTCCTGGTCTTTGGAGACACACCTGGGGCCTGTGGGAGGAAGGTCAACTGCAGAATCCCCAGCTCAGGGCTGAGGGCCCTGGATTTCCAACTCACCAGGCGCTCCCTGTGCCCCCAGCACACTGCAAAACCCATGAGGCCAGAAGCCTGTGGCCTGCCTTGTCTTCCCTCATCTATGCAGGAGGCCGGGGACATGCAAGGCAGTCAGCCTCCTTCCCTAAAGCCTGCTTCATGCCGGGCCTGGGCTGGGGCCTGACCACTGCTGGGGAGAAGGCAGGCCATCCAGCCTGGGAAGGCCCAGCCAAGATAGACTCTCGGGGGGACGGGAAGGCAGGGCTTTCTTCTTGAGGTGGAGGGCACCGGGCAGGCTTAGCGCTGGGGCTGTGGTGGCCAGGGCATCTGGGCACACCAGGGTGACCCCACTCCTGCTCCTCCACTGCTTGCAGCTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACGGTGAGCCGCCCGCAGCCCGTGCAGCCTTCCACCCCTGCACCCCTCTGCTCCCTCTCAGTGCCCCTCCTGCTCTAGCCGGCCTCGTCCTCAGGCTGCAGCCCTGAGGTCCCTGGGGGCTCAGGCGGGATTCTGGAGTCTTTCCTTTCCACACACACTCCAGAAAGTGGGACTCACTCCTAATCATCGGGATGGCTGTTCTGGTTCCCAGCACTCACTGGGTGCCAGGCTCCAGGCTGGGCCCTCTCCTGCAGTCTTTCTCTCAGCTCCATGACCATAACCGGCAGCTGGGCTCTAGGTGACTCCCCAGCCTGCAGAGTCAGTTCAGAGATATCTCTGCCACCCTGAGAAGCCCAGAGCATAAGGGCTTCCCTGCTCTGAAGGGACTGGTGGCATCAACAACTGGAGCCAAGTCTGAAAGGCCAGAGCACAGACAGCATTCAGAGGAAGAAGAAAGAATGGGATTGGGGCTGCGGCTGTCCAGGTCAGCCTGCCCATGCTGTCTTCCCAGATGCCCAGGACCCAGTGGGTTCTGAACTGGCCTGGCCAGGTGACCATCGCTGGGTGCCAGACCTACTGGACCATGGAGGTGGCAGAGGCTCTGGAGGCCGGCAACCTCAGAAGCCAACTGTTCCCCCAGCTCTGCCAGCAGGTTGGAGTCAAGAGGACCCCTGTCTGTCCCCCTCCACCCCCTACATGGCACAGGAGGGCCCAGTCCCTCCGGAAGCTTTCTCCTATAGTGAGCCTGGAAGAGGCCTGGGGTTGGGTCTAAAGGGGAGGTCAGACACCCTTGAAGTGTCTCACAACCAGCCACCCACAGGAAGGACGGGCCTGAGGCGATGCCCCCTCTGCAAGGGTCAGTGAGGGAGCCACGCGCCTGGTCCCTCCTGCACAGTACCACAGGCACCCCTTGCCCTGTGCTCCAGTG
AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGTCCACTACACATGCCGGGCCCATGATTCAGGGGCAGAACTGGCCCCTTAGTGGGCTGTGGGCCCCTCGAGGGAAGGGACCAGGCCGCATTCCCCTGTTTCCCCTAGTGCCTCCCAGGGCCTGGCACAGTCCTGACACTGCTGACTGTGACCCCCATCCCATGAGGAAGAAATGGATGAGTGCGTGAGTTTGCGCTGATGGGAGAAGACAAGAGATACATCCTGAATGGGGAATTTGGAGGCAGAAGGGGGAAATGGCTCATTTTGAAGATGTCTCACCCTTGGACTCATGTTTCAGAGAGTATTTTAGGACTCTCACACTCAAGACCCATTGAATCTCAGAGAATCCTGGGGTCATGGACCCAGAAGTCCTTCCAGGAAGGAGGCTGGTTTGTCTCCCAGGCACCGAGTGTTTCCTGTCACTGCAGGCTTTGCTGGCGTGGGTGTGTTCCTCCCTTTGGAAGAGCAGCTCCCCCGGCTCCTTTGGAGGCTTGGGCGTCCTGTGGGGATGTGGGACTTCTCTGGAGGGCAGGCATCCCTGTATCCTCTTTGTTCCCTGGAGTATCACAGATGACAGCACCATCTAGAAATCTCCCTGTAGACACTGGCTTTGGTGTCCAGTGCTCTGCCCAACATGCTGGTGGGGTGAAATGTCCCAGTCATTGGGACAAACCCCAGCTTGGACCCTGACAGTCCATATCACACCCCTCCCTGCCCCTCCCCTCCCCAGGAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAGGCAAGCTCAATGAGGGTGGGAGGGGCAGCTGGGATCCCCAAGGGCCCTGGTCACATTGCTGGTAGCCTCCTAGTCTCTTCCCTCCCTACACAGAAAAGGCTGGTGGACAAGCCTGAGGATTTGATCTTGAACCATGTCCTCCAGAGTGGGCTCCCCAGCCTCAGAGTTGCTCCTTAGAGGCACAGTCACTGACGGTTTTTCTCTTGGAGATCCACAGCCCATATTAACGTTTTTTTTTTGTTTGTCTGTTTTTTTTTTTTTGTTTTTTTTTTTGAAACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCCTGGTTCACCTCCCGGAGGCTGAGACAGGGTAATCCTGTCTTAGCCTACCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCGTGGCTGATTTTCTTTTGTATTTAGTGGAGCCGGGATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCACCATGCCCGGCCCATATTAGCATTTTAGAAGCTCTGACAAGTCCTGCAGCAAAGCAAACTCTTTAGCTTTGTTTAACTCTAACTTGTTTGACCGTAGAATTTTTTCTGTGGGGCTGATGGTTGCAGCCACTGGCTCAGGGAGAATTTTTCTGCATCTTCTTTCCCAGGCCCCGCTGAGGGGCTCTGGCTGGTGTGGGTGCTCTGGGATGAGCCTATCTTGCTACCTGGACCATGCTCACTGCCCATTTCTGTGCATGGCCCGGGCCCTGCAGGGGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAGGTGGGCGCCACCTGGCCATGCCCACTCCGCCACTGTCTGCCCACAAGGCTGAGGTGTCCAGGGCCCTGCTCAGGCTAGGGTGCGGGGATGTCAGCAGGACTGGGGCAGCTGGGGCCCAGGGAGCCTGCACGACCCGCTTCCTCACCCCTGTTCCCCTGGCAGATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGGGTGGGCAGCTGGGCCCGGGGCTCAGGGCTGGGAGCATGGGGCATCTTCCCAGGGAGAACGTCCCTCCCTTTGTGATGAGCCCTTTTAGCAGGAAATGTGGCAAATGACATTCCTGGTCTTTGGAGACACACCTGGGGCCTGTGGGAGGAAGGTCAACTGCAGAATCCCCAGCTCAGGGCTGAGGGCCCTGGATTTCCAACTCACCAGGCGCTCCCTGTGCCCCCAGCACACTGCAAAACCCATGAGGCCAGAAGCCTGTGGCCTGCCTTGTCTTCCCTCATCTATGCAGGAGGCCGGGGACATGCAAGGCAGTCAGCCTCCTTCCCTAAAGCCTGCTTCATGCCGGGCCTGGGCTGGGGCCTGACCACTGCTGGGGAGAAGGCAGGCCATCCAGCCTGGGAAGGCCCAGCCAAGATAGACTCTCGGGGGGACGGGAAGGCAGGGCTTTCTTCTTGAGGTGGAGGGCACCGGGCAGGCTTAGCGCTGGGGCTGTGGTGGCCAGGGCATCTGGGCACACCAGGGTGACCCCACTCCTGCTCCTCCACTGCTTGCAGCTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACGGTGAGCCGCCCGCAGCCCGTGCAGCCTTCCACCCCTGCACCCCTCTGCTCCCTCTCAGTGCCCCTCCTGCTCTAGCCGGCCTCGTCCTCAGGCTGCAGCCCTGAGGTCCCTGGGGGCTCAGGCGGGATTCTGGAGTCTTTCCTTTCCACACACACTCCAGAAAGTGGGACTCACTCCTAATCATCGGGATGGCTGTTCTGGTTCCCAGCACTCACTGGGTGCCAGGCTCCAGGCTGGGCCCTCTCCTGCAGTCTTTCTCTCAGCTCCATGACCATAACCGGCAGCTGGGCTCTAGGTGACTCCCCAGCCTGCAGAGTCAGTTCAGAGATATCTCTGCCACCCTGAGAAGCCCAGAGCATAAGGGCTTCCCTGCTCTGAAGGGACTGGTGGCATCAACAACTGGAGCCAAGTCTGAAAGGCCAGAGCACAGACAGCATTCAGAGGAAGAAGAAAGAATGGGATTGGGGCTGCGGCTGTCCAGGTCAGCCTGCCCATGCTGTCTTCCCAGATGCCCAGGACCCAGTGGGTTCTGAACTGGCCTGGCCAGGTGACCATCGCTGGGTGCCAGACCTACTGGACCATGGAGGTGGCAGAGGCTCTGGAGGCCGGCAACCTCAGAAGCCAACTGTTCCCCCAGCTCTGCCAGCAGGTTGGAGTCAAGAGGACCCCTGTCTGTCCCCCTCCACCCCCTACATGGCACAGGAGGGCCCAGTCCCTCCGGAAGCTTTCTCCTATAGTGAGCCTGGAAGAGGCCTGGGGTTGGGTCTAAAGGGGAGGTCAGACACCCTTGAAGTGTCTCACAACCAGCCACCCACAGGAAGGACGGGCCTGAGGCGATGCCCCCTCTGCAAGGGTCAGTGAGGGAGCCACGCGCCTGGTCCCTCCTGCACAGTACCACAGGCACCCCTTGCCCTGTGCTCCAGTG
Task1_train_7068
The gene BAP1 (BRCA1 associated deubiquitinase 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; BAP1-related tumor predisposition syndrome
CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCGCTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
Task1_train_7069
Here is a mutation in BAP1 (BRCA1 associated deubiquitinase 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hereditary cancer-predisposing syndrome
CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCGCTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
Task1_train_7070
This alteration occurs within gene BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAA
TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCAGAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAA
Task1_train_7071
A genomic change on Chromosome 3 affects BAP1 (BRCA1 associated deubiquitinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGG
CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCGGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGG
Task1_train_7072
Here’s a variant in BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Kury-Isidor syndrome
GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGTGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
Task1_train_7073
This sequence change occurs on Chromosome 3, altering BAP1 (BRCA1 associated deubiquitinase 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Neurodevelopmental disorder
GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGTGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
Task1_train_7074
A variant was discovered in gene BAP1 (BRCA1 associated deubiquitinase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hereditary cancer-predisposing syndrome
AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCTCAGTGGCCACCTGAGCCTAGGTGAAAAGAATT
AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCGTCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCTCAGTGGCCACCTGAGCCTAGGTGAAAAGAATT
Task1_train_7075
Gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Dilated cardiomyopathy 1Z
CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATCCACCAGATTAGGGACTGGGCCTCACTGTGACATGCCCCAGGATCCAGCCCTGTGCTGTGCGCGTGGTGGGTGTGTGAGTGAACCACTGGGTGGTGCACCGGCTGCTGGTGCTGCCCGATGTGGCGCTTCCTTTTATCCTCGGATGTCACCCTTCCTGGGTCACTCTGGGTGTCTGTAGAGGTCCCCAATTCTCCAGCTCACAAGGGCAGGCCTGAAGGGACTCCTCTCTGCTCCCCTCAGGTCTCTCCAGGGACCAGAAAGCTCTTGCTAGCGCTGGCCTCCATCAGAGGCATTTTTAGAATTCCAAGACCATCTCTGGAATGCCAGGCCTGTCTGGGGAATGCCAAGGCTGGGGCACAGGTGCAGAGAGAGTGGAGTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAG
CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATCCACCAGATTAGGGACTGGGCCTCACTGTGACATGCCCCAGGATCCAGCCCTGTGCTGTGCGCGTGGTGGGTGTGTGAGTGAACCACTGGGTGGTGCACCGGCTGCTGGTGCTGCCCGATGTGGCGCTTCCTTTTATCCTCGGATGTCACCCTTCCTGGGTCACTCTGGGTGTCTGTAGAGGTCCCCAATTCTCCAGCTCACAAGGGCAGGCCTGAAGGGACTCCTCTCTGCTCCCCTCAGGTCTCTCCAGGGACCAGAAAGCTCTTGCTAGCGCTGGCCTCCATCAGAGGCATTTTTAGAATTCCAAGACCATCTCTGGAATGCCAGGCCTGTCTGGGGAATGCCAAGGCTGGGGCACAGGTGCAGAGAGAGTGGAGTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACTATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAG
Task1_train_7076
A mutation in TNNC1 (troponin C1, slow skeletal and cardiac type), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Dilated cardiomyopathy 1Z
GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCA
GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCGATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCA
Task1_train_7077
A mutation on Chromosome 3 affecting TNNC1 (troponin C1, slow skeletal and cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hypertrophic cardiomyopathy 13
CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGAGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
Task1_train_7078
Given this variant in gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Dilated cardiomyopathy 1Z
CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGAGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
Task1_train_7079
Consider a variant on Chromosome 3 in gene TNNC1 (troponin C1, slow skeletal and cardiac type). Determine its clinical classification and disease relevance.
Pathogenic; Dilated cardiomyopathy 1Z
AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCAAAGGGACTCTCTGAAAAGGTTTCTGGAATGAATGAAAACATAAGCCCAGTGCAGGACAGGAGCTACAAAGTCGTGGGCCCCAGGCAAGGTGCAACACAACAGCTCAGGCTCCCATCCAACCAGGTTGGCGGGTTGCCATGACCTCCACTTTCCAGATAAGGAAACTGAGGCTCTGGAGGAGTGGTGACTTGCCCAAGATCTGACTGACTTGGTAACCCCCGCCTTTAACTAAACCTCTCTGGAATGGGGGTGCAATGTGCAAGGAGAGGCTAGGAGTGCAGGGCCCTGCCAAGAGAAGCCTCGAATGCCAAGCTCATAGTAAGATGCTGTGGAACTGGTGAAGGAGGAAGTGACTGACCCACCTTAGGACAGGGTGGCCAGGAGCCCTTCTGCCAGAGGAGCCTGTCCCAGACCTCCCATCTGCCCAGGGAGAAGTACCCACTTCGGGCTTAAGTCAGCTGCTCTCAGTTATTCAACAGCACCCCTATAGATGCCCCATCTGTGGCAGGCTCTTTCCCTCCTCACCCTCCAATTAGGTTACCACCTCCCTCTTCTAGGTCTCATCTTTCCCCGGTTTAGGATTCAGCACTGTAGTTCCTGGGTCCAGATCAACCTGTCTCCCTCGTTTTGAACTTTGGCAGGCCACCCCGTGGGGTTCTTGTGCTCAGTGGCAGCACACACCCCTCCATCCACCTACACCTTCCTTCGTACAGAGTTCGTATCAAGTTTATCCCTCTTGATAAACACGCTCCCTGCCTCGAGCACTACTGCGTGCTGGGCCGCGCATCAATCAACCCACTCAGTTGTCCAGAAGCCCCACTGACAAGAGATCTCCGAATCTCAGAGAGGTTCAGAACTGGCCCAGAATCACTCTCGCCCTGCTCCGGCGGTAAGCACAGGTCCTATTTTCCCCTCCAACCTGCCTTGCCCTAAAGAGAAAGAGCCCAACAGCCAGGTGAGGCACTATTATGGCCTCCTTTATCAGGAGGAGTAAACTGAGGCCAGGAAGAGCAGTGACTTGCTTCGTGTGGCCTGGGAGACTCGGGACCTTCTGTCCCCTCTTCCCGAGGACCCAGGGGCGATGCCCAGAGCTGTCACCACCCGGGGTCTCAGTTTCTAGCAGGCTGTGCAGGGTACCGCCGGCGGCGCCACGCAGGTAGATTACGCAAGCGAGCACCTCGCACGCGCGCCCTGAGTGGCCCCTGTCAGTCACGCGCGGGGGCGGGGCGAGGGCGCAGGAAGAAGGCGGGGCCAAGATGGCGGCGCAGCGCGCGGCGGGGGCGACGGGCGGCGGGGGCCGGGGGGCGGTGGGACGTTGACCCCGCCCCCTGCTGCTGCTAGTCTGCGCCGGGCGGCGGTGGCGGCGGAGACCCGAACATGGCGACCGCGCGCACCTTCGGGCCCGAGCGGGAAGCCGAGCCGGCCAAGGAAGCGCGCGTCGTGGGCTCGGAGCTTGTGGACACTTATACGGTGTGTTGGGGGCGCGGGCACCCGAAGCGGGGGTGGTGGCTGGAACCGGGAGTCCGACTCGGGGGCTTGGGGAGGGGTCCGGGATCTGCAGCCCCGAGGAGCGGGTAGAAGGGTCTGCGATTGCGAGGAGGGGGCTGGGACGGGGGATCTAGGAAAGGGATCTGGGCCCCGCAGGTCCGGGAGAAGGGTTGCTCGGGGCCCGGGGAGGCGGTTTGGAAAAGGGTACGCGATCAGAAAGGGAGGCTCGGGTTGGGGGCGGCATCTGGGGATAAAGGGGGCTTGGGGAGGGGGGTGTCTAGATGAGGCGGAACCCCTCT
AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTACATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCAAAGGGACTCTCTGAAAAGGTTTCTGGAATGAATGAAAACATAAGCCCAGTGCAGGACAGGAGCTACAAAGTCGTGGGCCCCAGGCAAGGTGCAACACAACAGCTCAGGCTCCCATCCAACCAGGTTGGCGGGTTGCCATGACCTCCACTTTCCAGATAAGGAAACTGAGGCTCTGGAGGAGTGGTGACTTGCCCAAGATCTGACTGACTTGGTAACCCCCGCCTTTAACTAAACCTCTCTGGAATGGGGGTGCAATGTGCAAGGAGAGGCTAGGAGTGCAGGGCCCTGCCAAGAGAAGCCTCGAATGCCAAGCTCATAGTAAGATGCTGTGGAACTGGTGAAGGAGGAAGTGACTGACCCACCTTAGGACAGGGTGGCCAGGAGCCCTTCTGCCAGAGGAGCCTGTCCCAGACCTCCCATCTGCCCAGGGAGAAGTACCCACTTCGGGCTTAAGTCAGCTGCTCTCAGTTATTCAACAGCACCCCTATAGATGCCCCATCTGTGGCAGGCTCTTTCCCTCCTCACCCTCCAATTAGGTTACCACCTCCCTCTTCTAGGTCTCATCTTTCCCCGGTTTAGGATTCAGCACTGTAGTTCCTGGGTCCAGATCAACCTGTCTCCCTCGTTTTGAACTTTGGCAGGCCACCCCGTGGGGTTCTTGTGCTCAGTGGCAGCACACACCCCTCCATCCACCTACACCTTCCTTCGTACAGAGTTCGTATCAAGTTTATCCCTCTTGATAAACACGCTCCCTGCCTCGAGCACTACTGCGTGCTGGGCCGCGCATCAATCAACCCACTCAGTTGTCCAGAAGCCCCACTGACAAGAGATCTCCGAATCTCAGAGAGGTTCAGAACTGGCCCAGAATCACTCTCGCCCTGCTCCGGCGGTAAGCACAGGTCCTATTTTCCCCTCCAACCTGCCTTGCCCTAAAGAGAAAGAGCCCAACAGCCAGGTGAGGCACTATTATGGCCTCCTTTATCAGGAGGAGTAAACTGAGGCCAGGAAGAGCAGTGACTTGCTTCGTGTGGCCTGGGAGACTCGGGACCTTCTGTCCCCTCTTCCCGAGGACCCAGGGGCGATGCCCAGAGCTGTCACCACCCGGGGTCTCAGTTTCTAGCAGGCTGTGCAGGGTACCGCCGGCGGCGCCACGCAGGTAGATTACGCAAGCGAGCACCTCGCACGCGCGCCCTGAGTGGCCCCTGTCAGTCACGCGCGGGGGCGGGGCGAGGGCGCAGGAAGAAGGCGGGGCCAAGATGGCGGCGCAGCGCGCGGCGGGGGCGACGGGCGGCGGGGGCCGGGGGGCGGTGGGACGTTGACCCCGCCCCCTGCTGCTGCTAGTCTGCGCCGGGCGGCGGTGGCGGCGGAGACCCGAACATGGCGACCGCGCGCACCTTCGGGCCCGAGCGGGAAGCCGAGCCGGCCAAGGAAGCGCGCGTCGTGGGCTCGGAGCTTGTGGACACTTATACGGTGTGTTGGGGGCGCGGGCACCCGAAGCGGGGGTGGTGGCTGGAACCGGGAGTCCGACTCGGGGGCTTGGGGAGGGGTCCGGGATCTGCAGCCCCGAGGAGCGGGTAGAAGGGTCTGCGATTGCGAGGAGGGGGCTGGGACGGGGGATCTAGGAAAGGGATCTGGGCCCCGCAGGTCCGGGAGAAGGGTTGCTCGGGGCCCGGGGAGGCGGTTTGGAAAAGGGTACGCGATCAGAAAGGGAGGCTCGGGTTGGGGGCGGCATCTGGGGATAAAGGGGGCTTGGGGAGGGGGGTGTCTAGATGAGGCGGAACCCCTCT
Task1_train_7080
This mutation occurs in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
Pathogenic; RFT1-congenital disorder of glycosylation
CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAA
CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCTGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAA
Task1_train_7081
A variant on Chromosome 3 in gene RFT1 (RFT1 glycolipid translocator homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; RFT1-congenital disorder of glycosylation
TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAAAGGTCAACTTCAGAACAAGCCACTCAAATGGGACCCATCACAGACCAGTACTTTGACCTCTTTTCCACAAAGCAGCAGAGATATGTAACCTGTTTTTCAGAAA
TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCACCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAAAGGTCAACTTCAGAACAAGCCACTCAAATGGGACCCATCACAGACCAGTACTTTGACCTCTTTTCCACAAAGCAGCAGAGATATGTAACCTGTTTTTCAGAAA
Task1_train_7082
The gene RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; RFT1-congenital disorder of glycosylation
GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATG
GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTTCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATG
Task1_train_7083
A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; RFT1-congenital disorder of glycosylation
CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTCTTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
Task1_train_7084
Here is a genetic alteration in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; RFT1-congenital disorder of glycosylation
CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTTTTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
Task1_train_7085
A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; RFT1-congenital disorder of glycosylation
TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGAGACATGTGTTGTCTGCAATCCAGAAAACCAATTTAGGGCCATCACTTGGACTGGATCCATTCCTTCAAACTTATTAAAACTGCTCTTAAAACCTTGGAAGGAAAAAAATGCATATGAGCAACCGTCCTTTCCAAAACTCACTCCACCGATTTTCCTGTTCTTACAACAATGTGAACTATCATCATACACATTTCACAATAGTTACGTTGTTGCTTTTCTTACCCCATTCACAAATACATGCTGAATAGCCCTCCTGTACCAGGCCACAGGGAGGCAGTAGTGAACGGCACAGTCTCTGCTCCCCAGGAGCTAAGTGCTCAGGCCCTTCACTCAGCTCTTCTGAGGCTTCTGACCCTCCCTTCCCCGAGAAGGCCTCGGAACGGTTTCATTTTTGTAATAGCAAAGTTATAAGGTTAGGCTGGAAACGTGTGTACTCTCAAAGATCAGAGAGCCCTCAGACACTGCCTGGTCCTATCCCTTATTCACAGATGGGGAAAGCGAGGCATAGGGGGAGTTGCTTTCTTTTGGAGACATAATAAACAAAAAATACAGATGGGGGGGAAATAAAATAACAAGATAATAACAGTTGTATTAGAATGCTAGTATTATTTTTTCTATTTTCTTATTTTTTTCTAACGGGACTATATTTTATAATTAAAAGAAAATTTTTGAAAAGATTAAAAATACATTCAGTAATAGGTATATGGATATGAAATATATATGAAGAGAGAAACTACTACCTTCAGCAACTTACAGCTGTCTTAAATCTCACTTTTTAAATTAAAGCTGGGTATAAGTAAACCAACACATATACATACAAAAACTAAATGTGCTTCCAGCCCCTTGCTGGCCCTCCACATTGAGAGCTCTGTCGTAGGTAAACTGAAAGGACCAAAGTCTGACCAAACTCTCATACAAGTGCATTTTGTTGTTTAAGAAAATAAATCCAGGATTAGGGAATTGACATAATTTTTAAAAAGAAGAAGAAGAAAATAAAATGATATAAATAAATGATATAAAATGATAAAAAGGCTGGGTGTGGTGGCTCGCGCCTGTAATCCCAGCACTCTGAGGCAGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCATGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATAGCACCACTGTACTCCAGCTTGGGCGACGGAGCAAGACTCCATCTCAAAAAAAAAAAAATGATAAAAATACTTTTATGTAACTGATATAATACTTTCATAATAAATTCATAAAAATCATATAACATGGGGTTTTGGAGTTAGACCTGGATCCCAGTTAAGCTGTTCCTTGTTACTATAAAACCCTAAAGAAATTCTGCAACCTCACTGACCCTTAGTTTCCTCATCCATGATGAAGGGGAACAATATGTTTCTTATAAGGCTGTGGAGAGATTTAAATTAGACCACTAAGTAAAGCATCAAACTAAACAGACGTTGGTTTCTCTCTCCGTATTAAGCCCCCTCCTCCCATTTCTGAAATTCTTCTGCCCCAGAGGCTCTGGACAGGTGGTCTGGACCCAGGTAATTGGCAGTCCTATGAAATCCCCTTCTACTATGGTCTCCCGACGATTCAGAGTGACCGTCTACTTACCTTCTGTCAAAATCTGTTTCAAGAAAGACTGTTTGAAAAAACTCCAAGTCAGTTTAGCCTCTTTCCAGTTTATAAACGCCTAGAAGAGAAAACAAAACAAAACAAAAACATCACAGGCGTTGCAAGTCTAAGAATGCAATGCTACATGAGAGGCAAATGCAATCTGGTCTCTAAATCCCAACTTGGATAGTCTCCACTGAATCCTCATCCAATGCTAAGCACACAGAAGGCATCTCACAAACACTGGAGAAGAATTTACATTACTAAACACAAAGCCAAAGTCTGTAAGGGCCTGCCCAAGACTCATATACTGAGACCCCTAAAGAATTGCTGCTGTCCCTTGGGGGCCCACACAGTACACTGACCACAGCTAACACGTACAGCTCACAGTTTGTTCTTTCCTTAAAAACTGTCTAAAGCATGCCAGGCTGCAGAAGAAATTCTGCTCCATATACTGCACATTGTAATGCTATGTTCAGCCATCCAGGGCCCTTTTACACAAAGTATAGGAGCTGCCCTTCTGCATTACAAAAGAAATTTAGCCTTCGCAGGTCAGGTAAACCACTCAGAATGGGTATGACAGAGGAACGGAGAAAATAAAATTTCTGATATGACTCTTCTAAAACTCCAGGCCAGGCGAGGTTGCTCACGCCTATAATCACAACACTTTGGGAAGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGCTACGTGTCTGTAATCTCAACTACTTGGGAGGCTGTGGCACAAGAATCGTTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGAACTTCAGCCTGGATGACAGAGCGAAAATCTGGCTCAAAAATAAATAAATAAATAAAACTCCCAGCGGCACCAAATGGCCCATTTCCTAAGGACAAGGAAACACTTAGGTAGGGTAGAGGTCAACCTATTAAGAGACAGGTGGCCTCAAAGCCAGGGAGCTGAGCACAAAATGGAAGAGCAAGGCAGCCAGGGAGCTCGGTATCCTCTGACTCCTGTTTTTCTACCTCCCACAGTTCTCTCTGGGGCCCCCTCCTCTATCTTGTAGGCACCCTGGGATCCCAGAATATTTAGACTAGGTGTTTGGTTTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTATCACCCAGGTTGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCAAACTCCTGGGCTCAAGCCATCTTCCCCCCTCAGCCTCCAGAATAGCCGGGACTACAGGTGTGTGCCACCATGCCTGGCTCATTTTTAAAATTTTTGTAGAGATGAGGGTCTTGCTGCATTGCCCAGGCTGGTCTCAAACTCCTGGCTCAAGCAATCCTCCCACCTCGGCTCCCAAAGTACTGGGATTCCAGGCATGAGCCACCATGCCTGGTTGATGTTAGGTTCTTAATCCTAGGGTACTTGCATTTTGAAAAGTAGTGATTATCCAAAGTGATTACTTCTCAATGGTAGGATTTCAGAGGGCTTTTTGGGAGGGGAGGGCTGAATTACAAAGGCCAAGCCCACTCTACCTCTCCAAAAGGTCAGCCACAGCTCTGGAAGTGGGCCCAAGGGCAGGCCTGGAACCTGTCTCAGTCATGTGGGCCCCTGTTCTGGGCAGAAAGCCCATCCGTGAAGAGCAATGCTATCCAGTAGAAATGTAATGTTAAATTTTCTAGCAGCCACAGTGCACAGGAAAAAGAAACAAGTGAAATTAATTTTAATATATTTTATTTAACCAAAATATTATCATTTCAACAAGTAATCCCTGTAAAAAATATTTTTTTTCATATTAAGACTTTGAAATCCAATATGTATTTTGCATTTATGACTCATCTGAATTCAGACTAGCCATATTCCAGAATGCTCTATAGCCACATGTGGCTGGTGGCTAACATTTGGGACAGGGCAAGCCTAGAGCACCTCTGAAAGCAAGGATCACTTCTAGCCCCCATTCT
TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGAGACATGTGTTGTCTGCAATCCAGAAAACCAATTTAGGGCCATCACTTGGACTGGATCCATTCCTTCAAACTTATTAAAACTGCTCTTAAAACCTTGGAAGGAAAAAAATGCATATGAGCAACCGTCCTTTCCAAAACTCACTCCACCGATTTTCCTGTTCTTACAACAATGTGAACTATCATCATACACATTTCACAATAGTTACGTTGTTGCTTTTCTTACCCCATTCACAAATACATGCTGAATAGCCCTCCTGTACCAGGCCACAGGGAGGCAGTAGTGAACGGCACAGTCTCTGCTCCCCAGGAGCTAAGTGCTCAGGCCCTTCACTCAGCTCTTCTGAGGCTTCTGACCCTCCCTTCCCCGAGAAGGCCTCGGAACGGTTTCATTTTTGTAATAGCAAAGTTATAAGGTTAGGCTGGAAACGTGTGTACTCTCAAAGATCAGAGAGCCCTCAGACACTGCCTGGTCCTATCCCTTATTCACAGATGGGGAAAGCGAGGCATAGGGGGAGTTGCTTTCTTTTGGAGACATAATAAACAAAAAATACAGATGGGGGGGAAATAAAATAACAAGATAATAACAGTTGTATTAGAATGCTAGTATTATTTTTTCTATTTTCTTATTTTTTTCTAACGGGACTATATTTTATAATTAAAAGAAAATTTTTGAAAAGATTAAAAATACATTCAGTAATAGGTATATGGATATGAAATATATATGAAGAGAGAAACTACTACCTTCAGCAACTTACAGCTGTCTTAAATCTCACTTTTTAAATTAAAGCTGGGTATAAGTAAACCAACACATATACATACAAAAACTAAATGTGCTTCCAGCCCCTTGCTGGCCCTCCACATTGAGAGCTCTGTCGTAGGTAAACTGAAAGGACCAAAGTCTGACCAAACTCTCATACAAGTGCATTTTGTTGTTTAAGAAAATAAATCCAGGATTAGGGAATTGACATAATTTTTAAAAAGAAGAAGAAGAAAATAAAATGATATAAATAAATGATATAAAATGATAAAAAGGCTGGGTGTGGTGGCTCGCGCCTGTAATCCCAGCACTCTGAGGCAGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCATGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATAGCACCACTGTACTCCAGCTTGGGCGACGGAGCAAGACTCCATCTCAAAAAAAAAAAAATGATAAAAATACTTTTATGTAACTGATATAATACTTTCATAATAAATTCATAAAAATCATATAACATGGGGTTTTGGAGTTAGACCTGGATCCCAGTTAAGCTGTTCCTTGTTACTATAAAACCCTAAAGAAATTCTGCAACCTCACTGACCCTTAGTTTCCTCATCCATGATGAAGGGGAACAATATGTTTCTTATAAGGCTGTGGAGAGATTTAAATTAGACCACTAAGTAAAGCATCAAACTAAACAGACGTTGGTTTCTCTCTCCGTATTAAGCCCCCTCCTCCCATTTCTGAAATTCTTCTGCCCCAGAGGCTCTGGACAGGTGGTCTGGACCCAGGTAATTGGCAGTCCTATGAAATCCCCTTCTACTATGGTCTCCCGACGATTCAGAGTGACCGTCTACTTACTTTCTGTCAAAATCTGTTTCAAGAAAGACTGTTTGAAAAAACTCCAAGTCAGTTTAGCCTCTTTCCAGTTTATAAACGCCTAGAAGAGAAAACAAAACAAAACAAAAACATCACAGGCGTTGCAAGTCTAAGAATGCAATGCTACATGAGAGGCAAATGCAATCTGGTCTCTAAATCCCAACTTGGATAGTCTCCACTGAATCCTCATCCAATGCTAAGCACACAGAAGGCATCTCACAAACACTGGAGAAGAATTTACATTACTAAACACAAAGCCAAAGTCTGTAAGGGCCTGCCCAAGACTCATATACTGAGACCCCTAAAGAATTGCTGCTGTCCCTTGGGGGCCCACACAGTACACTGACCACAGCTAACACGTACAGCTCACAGTTTGTTCTTTCCTTAAAAACTGTCTAAAGCATGCCAGGCTGCAGAAGAAATTCTGCTCCATATACTGCACATTGTAATGCTATGTTCAGCCATCCAGGGCCCTTTTACACAAAGTATAGGAGCTGCCCTTCTGCATTACAAAAGAAATTTAGCCTTCGCAGGTCAGGTAAACCACTCAGAATGGGTATGACAGAGGAACGGAGAAAATAAAATTTCTGATATGACTCTTCTAAAACTCCAGGCCAGGCGAGGTTGCTCACGCCTATAATCACAACACTTTGGGAAGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGCTACGTGTCTGTAATCTCAACTACTTGGGAGGCTGTGGCACAAGAATCGTTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGAACTTCAGCCTGGATGACAGAGCGAAAATCTGGCTCAAAAATAAATAAATAAATAAAACTCCCAGCGGCACCAAATGGCCCATTTCCTAAGGACAAGGAAACACTTAGGTAGGGTAGAGGTCAACCTATTAAGAGACAGGTGGCCTCAAAGCCAGGGAGCTGAGCACAAAATGGAAGAGCAAGGCAGCCAGGGAGCTCGGTATCCTCTGACTCCTGTTTTTCTACCTCCCACAGTTCTCTCTGGGGCCCCCTCCTCTATCTTGTAGGCACCCTGGGATCCCAGAATATTTAGACTAGGTGTTTGGTTTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTATCACCCAGGTTGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCAAACTCCTGGGCTCAAGCCATCTTCCCCCCTCAGCCTCCAGAATAGCCGGGACTACAGGTGTGTGCCACCATGCCTGGCTCATTTTTAAAATTTTTGTAGAGATGAGGGTCTTGCTGCATTGCCCAGGCTGGTCTCAAACTCCTGGCTCAAGCAATCCTCCCACCTCGGCTCCCAAAGTACTGGGATTCCAGGCATGAGCCACCATGCCTGGTTGATGTTAGGTTCTTAATCCTAGGGTACTTGCATTTTGAAAAGTAGTGATTATCCAAAGTGATTACTTCTCAATGGTAGGATTTCAGAGGGCTTTTTGGGAGGGGAGGGCTGAATTACAAAGGCCAAGCCCACTCTACCTCTCCAAAAGGTCAGCCACAGCTCTGGAAGTGGGCCCAAGGGCAGGCCTGGAACCTGTCTCAGTCATGTGGGCCCCTGTTCTGGGCAGAAAGCCCATCCGTGAAGAGCAATGCTATCCAGTAGAAATGTAATGTTAAATTTTCTAGCAGCCACAGTGCACAGGAAAAAGAAACAAGTGAAATTAATTTTAATATATTTTATTTAACCAAAATATTATCATTTCAACAAGTAATCCCTGTAAAAAATATTTTTTTTCATATTAAGACTTTGAAATCCAATATGTATTTTGCATTTATGACTCATCTGAATTCAGACTAGCCATATTCCAGAATGCTCTATAGCCACATGTGGCTGGTGGCTAACATTTGGGACAGGGCAAGCCTAGAGCACCTCTGAAAGCAAGGATCACTTCTAGCCCCCATTCT
Task1_train_7086
Here is a mutation in PRKCD (protein kinase C delta) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGAGAACATATTCGGGGAGAGCCGGGCCAGCACCTTCTGCGGCACCCCTGACTATATCGCCCCTGAGGTGAGCCGATACCCTTCCAGCCCCCCGCTCAGTCAGGCACCTTGCCTCCCCACGGTGGGCCAGGGAAGGATTCCCAAGGGCAGTGATGTCCAAGCCAAAGCCCATAGGCTGAGGCGGCCTGGCTAGGCTTCGTGCCCAGGGGCCCCTCTCAGCCTCAGCACCTCAGCTCCTGCTGACCTGCTGCTCTCCCCACCGCCAGATCCTACAGGGCCTGAAGTACACATTCTCTGTGGACTGGTGGTCTTTCGGGGTCCTTCTGTACGAGATGCTCATTGGCCAGTCCCCCTTCCATGGTGATGATGAGGATGAACTCTTCGAGTCCATCCGTGTGGACACGCCACATTATCCCCGCTGGATCACCAAGGAGTCCAAGGACATCCTGGAGAAGGTGGAGGCCCTGGGCTGGGCTGGGCTGGTCTGGGCTGGGCTGGGGCAGGGGCTGGCAGACACTGGGCTTTGGGTGAGGAGCTTCCTGTCTCTGGAATGGCAGCCTCAGTGGTGCTGCAGTCCTAACATACGGGGTATTGCTCTCTCACCATGTTCCCAGGAACTCCTGTCTGAGTCCTGTGCATAGAATCAGCCTGACATGGTGACTAAGGGCCCAGGGTCAGGAGACAGACCCGAGGCCAAATGCTGGCTCTGCCTGGGACTAGCTGGTCACTTAACCTCTCAGAGTTTGTCTCCTTATCTGTAAAATGGGGCTATGAGCAGACTTGACTCACAGAGTTGTTGGGAAGAAAATAGAAACATATGATGCTCAGCTGTGGGCCAGGCAGATAGTAAATAATAAAAAGTTCCACCAGCAGAGTCGCAGATGTCCAGCCCAGAGCCTGTCATCTCCGGGGGAGCTGGGAGCACTGCAGGCCAGAGTGGCCTCCCTCAGCCCCACCGTTCCCCAGGCTGACTGGGGCTGGGGCAAGCCTGGCTTTGCATCCCTGGGCCTGCTGGGGATTTGCTGAAGCTCCAATTTCCCATGGCCCTTGGGTGCTAACCAGGGTCCCTGCTGGGTTGCAGCTCTTTGAAAGGGAACCAACCAAGAGGCTGGGAGTGACCGGAAACATCAAAATCCACCCCTTCTTCAAGACCATAAACTGGACTCTGCTGGAAAAGCGGAGGTTGGAGCCACCTTTCAGGCCCAAAGTGGTATGTGATCCTGCCCTGTGCTGCCTTCAGGCTGAGCTACTCCTCTCCTGCCCTCCCTCTCTCCTGCATCATTCACACGCTTTCCACCTCTCCCTTCTTCCAGCAATCTCCATAGCATGTTCAGTCACAGCCGCTGCCCTTGTATTCTCATCCTCTCCCTCCTGACTCAGTCATTCAGCACACACTGGGGACTGTGGATCCCACTGTATGCAGAGGACCCTGTTTTGGGAAATAGAGTTAAGACCTCACTTTATCGCTCCATTCAATCCATTTTCCAATACATATGGGGAATCCTGAGTCCCTGTTGAATGCAGAGCACAGTGCTGGGCTGCACAGCAAAGTGGGAGATGCAGTCCCAGAACCGGAGGAGCTCTCAGCTAGTTGGAGAGATAAGAAACTTGCACACCTATGACAATTTGTGATACGAGATGACAGTATAAGAGATGCCCCAGGACACATGATCCGTTGCTATTGAGTGGGTCTGTCAGCAGGAACCCAGGTGGCAGAGAAGAGGGTGGGTCTGAGAGGCCCCGTTGGAAGAAGTGAGACAAGGGACAGCTGGGAGGCATTCCAGGTGGAAGAGGGGCTGGTTCACTCACAGGCCCAGAATCTACAGGGCTACCAAGGAACCAGCCTGAGAGCAGAGGCAGGTGGGGCCACTAAGAAATTTGGGGCTGTGTGGCCCCTCTGTGACCACAGTTCTTCCTTCCCACTCCCCTTCTGTCCTTTGATTCCCCTCCTCCACCAGGGCACACAGTTCCCACTGGGCAGCCTGTGTAATGCGCCCCACATTTGTGCTTTGAGGCTACAGAGCACTTCCCCTACACCAGGGACCTCAAACTCAGACGTGTCCTGGCTGAGCATGTAACTGACAGGCT
TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGAGAACATATTCGGGGAGAGCCGGGCCAGCACCTTCTGCAGCACCCCTGACTATATCGCCCCTGAGGTGAGCCGATACCCTTCCAGCCCCCCGCTCAGTCAGGCACCTTGCCTCCCCACGGTGGGCCAGGGAAGGATTCCCAAGGGCAGTGATGTCCAAGCCAAAGCCCATAGGCTGAGGCGGCCTGGCTAGGCTTCGTGCCCAGGGGCCCCTCTCAGCCTCAGCACCTCAGCTCCTGCTGACCTGCTGCTCTCCCCACCGCCAGATCCTACAGGGCCTGAAGTACACATTCTCTGTGGACTGGTGGTCTTTCGGGGTCCTTCTGTACGAGATGCTCATTGGCCAGTCCCCCTTCCATGGTGATGATGAGGATGAACTCTTCGAGTCCATCCGTGTGGACACGCCACATTATCCCCGCTGGATCACCAAGGAGTCCAAGGACATCCTGGAGAAGGTGGAGGCCCTGGGCTGGGCTGGGCTGGTCTGGGCTGGGCTGGGGCAGGGGCTGGCAGACACTGGGCTTTGGGTGAGGAGCTTCCTGTCTCTGGAATGGCAGCCTCAGTGGTGCTGCAGTCCTAACATACGGGGTATTGCTCTCTCACCATGTTCCCAGGAACTCCTGTCTGAGTCCTGTGCATAGAATCAGCCTGACATGGTGACTAAGGGCCCAGGGTCAGGAGACAGACCCGAGGCCAAATGCTGGCTCTGCCTGGGACTAGCTGGTCACTTAACCTCTCAGAGTTTGTCTCCTTATCTGTAAAATGGGGCTATGAGCAGACTTGACTCACAGAGTTGTTGGGAAGAAAATAGAAACATATGATGCTCAGCTGTGGGCCAGGCAGATAGTAAATAATAAAAAGTTCCACCAGCAGAGTCGCAGATGTCCAGCCCAGAGCCTGTCATCTCCGGGGGAGCTGGGAGCACTGCAGGCCAGAGTGGCCTCCCTCAGCCCCACCGTTCCCCAGGCTGACTGGGGCTGGGGCAAGCCTGGCTTTGCATCCCTGGGCCTGCTGGGGATTTGCTGAAGCTCCAATTTCCCATGGCCCTTGGGTGCTAACCAGGGTCCCTGCTGGGTTGCAGCTCTTTGAAAGGGAACCAACCAAGAGGCTGGGAGTGACCGGAAACATCAAAATCCACCCCTTCTTCAAGACCATAAACTGGACTCTGCTGGAAAAGCGGAGGTTGGAGCCACCTTTCAGGCCCAAAGTGGTATGTGATCCTGCCCTGTGCTGCCTTCAGGCTGAGCTACTCCTCTCCTGCCCTCCCTCTCTCCTGCATCATTCACACGCTTTCCACCTCTCCCTTCTTCCAGCAATCTCCATAGCATGTTCAGTCACAGCCGCTGCCCTTGTATTCTCATCCTCTCCCTCCTGACTCAGTCATTCAGCACACACTGGGGACTGTGGATCCCACTGTATGCAGAGGACCCTGTTTTGGGAAATAGAGTTAAGACCTCACTTTATCGCTCCATTCAATCCATTTTCCAATACATATGGGGAATCCTGAGTCCCTGTTGAATGCAGAGCACAGTGCTGGGCTGCACAGCAAAGTGGGAGATGCAGTCCCAGAACCGGAGGAGCTCTCAGCTAGTTGGAGAGATAAGAAACTTGCACACCTATGACAATTTGTGATACGAGATGACAGTATAAGAGATGCCCCAGGACACATGATCCGTTGCTATTGAGTGGGTCTGTCAGCAGGAACCCAGGTGGCAGAGAAGAGGGTGGGTCTGAGAGGCCCCGTTGGAAGAAGTGAGACAAGGGACAGCTGGGAGGCATTCCAGGTGGAAGAGGGGCTGGTTCACTCACAGGCCCAGAATCTACAGGGCTACCAAGGAACCAGCCTGAGAGCAGAGGCAGGTGGGGCCACTAAGAAATTTGGGGCTGTGTGGCCCCTCTGTGACCACAGTTCTTCCTTCCCACTCCCCTTCTGTCCTTTGATTCCCCTCCTCCACCAGGGCACACAGTTCCCACTGGGCAGCCTGTGTAATGCGCCCCACATTTGTGCTTTGAGGCTACAGAGCACTTCCCCTACACCAGGGACCTCAAACTCAGACGTGTCCTGGCTGAGCATGTAACTGACAGGCT
Task1_train_7087
This variant affects the gene TKT (transketolase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Transketolase deficiency
CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACGAACACCAGGGGCAAGGTCAGGAAACACCCCCTGGGGCAGCAAGTGACCAGCTCTGGCCTCCTCTTCTGTTTCCCTTGGGAAGTGATGGCTGCCAGCAGGAGAAAGAACAGCCATGCAACCTACCTTTGTATTGGCGGCTAGTTCCACTGCCTTCTCTGTAGCAACGCCATCACTTGGGTAAAAGACAGTTGATGTGGGGACTGACCGAAACATAGCCAGATCTTCTAGGGCCATCTGGGAGGGCCCGTCTTCCCCTGGGGTGTGGGGGAAAGGATATGCAGAAATAAGACCCCTACCCCCCCATCCATGGGCTGGAATCCTGGCCCATCCCCCTCCCATACCTCCTGGTGCAAAAGTCAAGGGAGCTCCAGGTGTAAACACCCTGGCTAAACTCACCGATGGAAACGCCGCAGTGGGAGCCGCAGAGGTTGATGTTGCTCTCGGAGATGGCGGCCATGCGAATCTGGTCAAAGGCCCGCGTGAAGAAGGCTGCAAAAGTGCTGCAGAAGGGCACCGTCCTGTTGCGGGTGGCACAGCCCACCGCGATGCTCACCTGGGGGCAGGTGGGACAGGGTCAGCCCAAAGGGGCAGGCAGAGGGTGGTCGGGGAGCCTAGGACCCCTTTTGTGGAGAAAGCCACAATTTGTATATAGATTGTCCATCCTTTCTGGGCTTCTGAATATGTCCCCCACCACCTTCTTCTGCAGAGACCGGTCCTCCCAACCCCTCCCTGGGGTCCGAGGGCAGCAGCCTCATGCCTGCTGAGGCTCCAGGCCCCAAATCACTCATCCAGAAGCAGCACTGAGTACAGTCATCAGTTCCAAACCAGCTGCCCTTCAAGGCTCCAAAATCTGCCAGCCAACACAAGGCCTCTTTCCCTAGTACCTGGGACCTCCCCAGCCCCACGCCCTGCAGAGCAGTCTCTGGAAACCACAGAGAGAATTTCAGGTCCAGTTGGAAGAACTCTGGAGATCTGAGTGCCCTCCAGAGAGAGGAAGCTCCCTGTCCCTAGGGGCCTGCAAGCCAGGCTGGGCTCCTGGACCACCAGGAGGGGATATTTTGAAAACATGGACAAAACATTGTTCCTTACTTCACAACCTCAGTTCCTGACAAGGGTCTGCTTCCCCAAATGGGTACATGTCAGGGGCCCAGAGTTCCCTCATCTCTGCATCCCTCAGGGTGGCAGGGCCCAGAGCCGTGTGCATTACAGGTGCTCTACAGACTCGGGCTGCTAAACCCATCACGGCCCCACCTACTGGCCAGGCCTGTCCTCCACCTGGAAGAGACCCCATTCACCACCAGGCCTGGCCTGTACGCAGCTCCTCCTGAGAGCACCTGCAGTCCCATTCGGCTCCCCCATGTGCACACCTGTCCAGGACATTTGCACCTGGGCAGAACCTCCCAAACTGTGGCTGTTCAAGGTCAGGGGTTAACGCTGGGTCCTGGCTTTTCTTATAGTCTCCCTGGGCTGGCCTACAGCAGGCACCTGGCTCTGCCAACATGGCTGCCCCGCACCCCTCAGACCACAGCCCTCAGCCTTGGGTGGACCTGTCCCTGCCGGCCCCAGCACCTACCATGTTCTGCTCAGCAATGTAGCACTCGATGAAGCGGTCCGGGTGCTCCTTTTTGAAGATCTCCGAGAAGGTGGAATTTTTGGTGTCCCCATCCAGGGCGATGATGCGGTCACTGGCATGGCCCAGCTTGGCCAGTGCCTGCCCGTAGGCCTTGCGGGTGGCTATCTGTGAGGAAGAGAGTGGGAAGGCTCTGGACCCCTCTGAGGGTGAGTGCACACCTGCAGCCTGGAGCCCTGCTTTCAGAGAAGGATTAAAACGGGGCCAAAAATGGAAGCCCTGGAGCACAAGGTCCTGCAGAGGCTTTTAACTGCTGAAAGGTTGCCAACGACTACGGTCAATGTCTTGGGAGCCCCTGGAGCCCCGGCCCCTTCTGGCTGTGAAAGGTATAAGCTACAGAAGACACCCACCAGCCCCAACTTCCCGCCTGCTGCACCAGGTCCATGAACCTATTCCACTTTGCATGGGAACACAGAAGGCTTGGGAGTCAAGGCCAGGCACAGGCTGCATGGATGGGTTCCCTTGGGACAGAAACCTGGAGTGGGACAGCTCTGCCTAGCCTTTCCCAGGTCAGGTGGGGGTCCTGAGCTCAGGCCAAGGGTCCCTCGTGGACCAGCGATGCAAGAACTTGGGAGTGAGTCCTTGGCTTTGATCTCAGTTCTGTCAGTAGCTTGCTAAGCTTGCTAAGTGGGCAATTCCCTTGCCCGGTCTGAGCCTCTGCAGGTCAACTCCAGAGATGTCTGTCATTCTGAGGGAAGTGACAGGAACAACACCTCAGGGATCACTCCTCGCCCTAAATGAATCGCTCTCCTCCCTTTCCCAGCCCTCCAGAGGGTGTATCTGGGCCACAGACTTGGGAAACCTGAGAACTATGGGTTCAGAGAAACAGGCCCCACTTTGTACCTTGTCCCCAACTTTGTAGCTGGGCAGGCTGGGCATGCGGATGTTGGCAATGTCCACTGAGGGTGCGTCCTCCTGTGGAGGGGTTGCCAGGATCTTCTTTTTGCTCTGGATCTGGCTGTAGATCTCCTGGATGATCTGCTCAGCCATGTTTTTGGGGAGGGGCTTCCCATGCCAAGACTCCTTATCTTCTACCCCTGCAGACCCAACACGGGAGGACAGAGGAATGGGTAAGACAGAAGCTCCCAGAGGGCCAGGAGGCTGCTCCAGGAGACTGGCCCTCTACCTGCCGAGGGCAAGGGAGGAATGGCATCATCCCAGACAGGCAGAGCCCAGCCAGGCACGGGGGCCAGGAAAGGAGGGTCGCAGTGAATAGGATGGACTCCTACGTGCCCACCACTCACTGTCTACTGCCTGGTCCTTTGGGAGCTCACAGCTGAGTGGGAAAGGAGGGGCCAGACGTGGGCAGGTGTGTGTTTCTGGGCCCACTGCCCCATCCCTTCACCAATGTGTCCATTCTCTTCCTCCCCACAACCCCGCCTGCAGGGTCACACACAGGTAGAGGTGTCTGCTGCAGAAATACTCAGTTTGTCGACTGGGTTGGAAGGGACCCTGGCCATCAGAAGGGGAACCCAAGGCCCAGAACAGGGCTTCCAGGGTCACCCAATGCATCTGTGAGCAGCAGAGGAGTCTATAAGCACCTAGGCATGCCCACCCCATGGCACCTTGTTGTGTGCGGCCAGGAAGGCTGAATATCCCTCTCCCTGGAGGTCACCTCAGTAGTCACTAGAGTCTGGCCAGAGCCAAGAACAGACTGAACTCCCAGGTAGCACCCAGCAGCCCGAAAGACTAGCAGGAGCCCCCAAGAAGCTGCAAGTGGTCCAGATCCTGCCCATTTTTAACACCAGAGGGCAGTGCCAGGCAGCAGCACCAAAGCCATGACAATATCCCAGAGCCCTTTCCTCGACATCCACCCCCTCCCAGACACCTCCCAGCACTGCCAAACCCCCACTCAGAACATCCTCATATACCTGAGTCTACATGGGCAGAACAAGCCACAACCCCTGAGAGCAGGCAGGTGGGCAGCCAGGGGCATTTGGCAGGGAAGCCGACCCAGGCCCTGGGATCAGCCCCCCTCGTGCCATAGACTTCCTCTGTCCCCGGGCAAGTCCCTGACCACTTGTAGTCTCATTTTCCCATCTTTAAAATGGGTGAGGCCATCCCAGGCCTAGGAATCTGAAGCCCACACCTGGGTGCCAGGGAGTGACTTACGCCTGCCTCATTCTCCGGCCTGGGGCAGAACCCA
CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACGAACACCAGGGGCAAGGTCAGGAAACACCCCCTGGGGCAGCAAGTGACCAGCTCTGGCCTCCTCTTCTGTTTCCCTTGGGAAGTGATGGCTGCCAGCAGGAGAAAGAACAGCCATGCAACCTACCTTTGTATTGGCGGCTAGTTCCACTGCCTTCTCTGTAGCAACGCCATCACTTGGGTAAAAGACAGTTGATGTGGGGACTGACCGAAACATAGCCAGATCTTCTAGGGCCATCTGGGAGGGCCCGTCTTCCCCTGGGGTGTGGGGGAAAGGATATGCAGAAATAAGACCCCTACCCCCCCATCCATGGGCTGGAATCCTGGCCCATCCCCCTCCCATACCTCCTGGTGCAAAAGTCAAGGGAGCTCCAGGTGTAAACACCCTGGCTAAACTCACCGATGGAAACGCCGCAGTGGGAGCCGCAGAGGTTGATGTTGCTCTCGGAGATGGCGGCCATGCGAATCTGGTCAAAGGCCCGCGTGAAGAAGGCTGCAAAAGTGCTGCAGAAGGGCACCGTCCTGTTGCGGGTGGCACAGCCCACCGCGATGCTCACCTGGGGGCAGGTGGGACAGGGTCAGCCCAAAGGGGCAGGCAGAGGGTGGTCGGGGAGCCTAGGACCCCTTTTGTGGAGAAAGCCACAATTTGTATATAGATTGTCCATCCTTTCTGGGCTTCTGAATATGTCCCCCACCACCTTCTTCTGCAGAGACCGGTCCTCCCAACCCCTCCCTGGGGTCCGAGGGCAGCAGCCTCATGCCTGCTGAGGCTCCAGGCCCCAAATCACTCATCCAGAAGCAGCACTGAGTACAGTCATCAGTTCCAAACCAGCTGCCCTTCAAGGCTCCAAAATCTGCCAGCCAACACAAGGCCTCTTTCCCTAGTACCTGGGACCTCCCCAGCCCCACGCCCTGCAGAGCAGTCTCTGGAAACCACAGAGAGAATTTCAGGTCCAGTTGGAAGAACTCTGGAGATCTGAGTGCCCTCCAGAGAGAGGAAGCTCCCTGTCCCTAGGGGCCTGCAAGCCAGGCTGGGCTCCTGGACCACCAGGAGGGGATATTTTGAAAACATGGACAAAACATTGTTCCTTACTTCACAACCTCAGTTCCTGACAAGGGTCTGCTTCCCCAAATGGGTACATGTCAGGGGCCCAGAGTTCCCTCATCTCTGCATCCCTCAGGGTGGCAGGGCCCAGAGCCGTGTGCATTACAGGTGCTCTACAGACTCGGGCTGCTAAACCCATCACGGCCCCACCTACTGGCCAGGCCTGTCCTCCACCTGGAAGAGACCCCATTCACCACCAGGCCTGGCCTGTACGCAGCTCCTCCTGAGAGCACCTGCAGTCCCATTCGGCTCCCCCATGTGCACACCTGTCCAGGACATTTGCACCTGGGCAGAACCTCCCAAACTGTGGCTGTTCAAGGTCAGGGGTTAACGCTGGGTCCTGGCTTTTCTTATAGTCTCCCTGGGCTGGCCTACAGCAGGCACCTGGCTCTGCCAACATGGCTGCCCCGCACCCCTCAGACCACAGCCCTCAGCCTTGGGTGGACCTGTCCCTGCCGGCCCCAGCACCTACCATGTTCTGCTCAGCAATGTAGCACTCGATGAAGCGGTCCGGGTGCTCCTTTTTGAAGATCTCCGAGAAGGTGGAATTTTTGGTGTCCCCATCCAGGGCGATGATGCGGTCACTGGCATGGCCCAGCTTGGCCAGTGCCTGCCCGTAGGCCTTGCAGGTGGCTATCTGTGAGGAAGAGAGTGGGAAGGCTCTGGACCCCTCTGAGGGTGAGTGCACACCTGCAGCCTGGAGCCCTGCTTTCAGAGAAGGATTAAAACGGGGCCAAAAATGGAAGCCCTGGAGCACAAGGTCCTGCAGAGGCTTTTAACTGCTGAAAGGTTGCCAACGACTACGGTCAATGTCTTGGGAGCCCCTGGAGCCCCGGCCCCTTCTGGCTGTGAAAGGTATAAGCTACAGAAGACACCCACCAGCCCCAACTTCCCGCCTGCTGCACCAGGTCCATGAACCTATTCCACTTTGCATGGGAACACAGAAGGCTTGGGAGTCAAGGCCAGGCACAGGCTGCATGGATGGGTTCCCTTGGGACAGAAACCTGGAGTGGGACAGCTCTGCCTAGCCTTTCCCAGGTCAGGTGGGGGTCCTGAGCTCAGGCCAAGGGTCCCTCGTGGACCAGCGATGCAAGAACTTGGGAGTGAGTCCTTGGCTTTGATCTCAGTTCTGTCAGTAGCTTGCTAAGCTTGCTAAGTGGGCAATTCCCTTGCCCGGTCTGAGCCTCTGCAGGTCAACTCCAGAGATGTCTGTCATTCTGAGGGAAGTGACAGGAACAACACCTCAGGGATCACTCCTCGCCCTAAATGAATCGCTCTCCTCCCTTTCCCAGCCCTCCAGAGGGTGTATCTGGGCCACAGACTTGGGAAACCTGAGAACTATGGGTTCAGAGAAACAGGCCCCACTTTGTACCTTGTCCCCAACTTTGTAGCTGGGCAGGCTGGGCATGCGGATGTTGGCAATGTCCACTGAGGGTGCGTCCTCCTGTGGAGGGGTTGCCAGGATCTTCTTTTTGCTCTGGATCTGGCTGTAGATCTCCTGGATGATCTGCTCAGCCATGTTTTTGGGGAGGGGCTTCCCATGCCAAGACTCCTTATCTTCTACCCCTGCAGACCCAACACGGGAGGACAGAGGAATGGGTAAGACAGAAGCTCCCAGAGGGCCAGGAGGCTGCTCCAGGAGACTGGCCCTCTACCTGCCGAGGGCAAGGGAGGAATGGCATCATCCCAGACAGGCAGAGCCCAGCCAGGCACGGGGGCCAGGAAAGGAGGGTCGCAGTGAATAGGATGGACTCCTACGTGCCCACCACTCACTGTCTACTGCCTGGTCCTTTGGGAGCTCACAGCTGAGTGGGAAAGGAGGGGCCAGACGTGGGCAGGTGTGTGTTTCTGGGCCCACTGCCCCATCCCTTCACCAATGTGTCCATTCTCTTCCTCCCCACAACCCCGCCTGCAGGGTCACACACAGGTAGAGGTGTCTGCTGCAGAAATACTCAGTTTGTCGACTGGGTTGGAAGGGACCCTGGCCATCAGAAGGGGAACCCAAGGCCCAGAACAGGGCTTCCAGGGTCACCCAATGCATCTGTGAGCAGCAGAGGAGTCTATAAGCACCTAGGCATGCCCACCCCATGGCACCTTGTTGTGTGCGGCCAGGAAGGCTGAATATCCCTCTCCCTGGAGGTCACCTCAGTAGTCACTAGAGTCTGGCCAGAGCCAAGAACAGACTGAACTCCCAGGTAGCACCCAGCAGCCCGAAAGACTAGCAGGAGCCCCCAAGAAGCTGCAAGTGGTCCAGATCCTGCCCATTTTTAACACCAGAGGGCAGTGCCAGGCAGCAGCACCAAAGCCATGACAATATCCCAGAGCCCTTTCCTCGACATCCACCCCCTCCCAGACACCTCCCAGCACTGCCAAACCCCCACTCAGAACATCCTCATATACCTGAGTCTACATGGGCAGAACAAGCCACAACCCCTGAGAGCAGGCAGGTGGGCAGCCAGGGGCATTTGGCAGGGAAGCCGACCCAGGCCCTGGGATCAGCCCCCCTCGTGCCATAGACTTCCTCTGTCCCCGGGCAAGTCCCTGACCACTTGTAGTCTCATTTTCCCATCTTTAAAATGGGTGAGGCCATCCCAGGCCTAGGAATCTGAAGCCCACACCTGGGTGCCAGGGAGTGACTTACGCCTGCCTCATTCTCCGGCCTGGGGCAGAACCCA
Task1_train_7088
The gene CACNA1D (calcium voltage-gated channel subunit alpha1 D), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGGTGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGAGACTT
CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGATGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGAGACTT
Task1_train_7089
Consider a variant on Chromosome 3 in gene CACNA1D (calcium voltage-gated channel subunit alpha1 D). Determine its clinical classification and disease relevance.
Pathogenic; not provided
ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAAGCGAAGTGGCTCTCTGCACTGATTGCATGAGCAGATCCACGTCCCATATGGTGGATATAGGAACTGCATATGTGTGCAAGTGTAGTTTTGCATCTGCACGTGAATCTATGAATATCTAGATTTTCTAACCCACTTAAGGGCTGCATATGACAGATTCTGGAGTTATCTATAAGCCATAAGGAAGGACTGATAGCATGATCAAGTCAAGATTATACTTTTAAAAGTCGCATTTTAAGACCAACATAATTTTTATGATGAAGTCTGTTAATTTCTGTGCCATTTGTGCTCATCTTTCTTTCCTGCACTCCCACCCCAATCTAGACCTCCAGAGTGAAAGCCAAATTATCTCTCAATCATATTTATTGGATACTCAGATGCTGTATCTGTCATCTACGTAGTAATGTTTGCTTGTCTTTTAGCCGACGCTGGCGTCGCTGGAACCGATTCAATCGCAGAAGATGTAGGGCCGCCGTGAAGTCTGTCACGTTTTACTGGCTGGTTATCGTCCTGGTGTTTCTGAACACCTTAACCATTTCCTCTGAGCACTACAATCAGCCAGATTGGTTGACACAGATTCAAGGTACAAGCAGAGGCCATTCCTTTTTTGTTCTGAACTAGAGATTTCTGTGGCTGTCCAACTGCCATTTGGTCTTATCTGATCGCTGCATGATGAAGTATCGCAACATTTCTAGTGAGGACAAACTTGGTAGAACCATCCAGACACAGCAACTACCAGAGCGAGGGTGCCATCTGTGCCGCGTGGTGAAGCACCTTGGAGCCACTTAATGCCAAGCATCTAATTGTCCTAACCCTGAGCCAACCTAGGACCAAGAATTCTTGAAGCTGGAAGGGACCTCGTAATCCCTGCTCCCTGCCCTCATCGGGGAAGCTTCATTTTCCCCTATAGTACTTCTGGCAAATGGTTTTGGTTCCCCTGCTTTGAATGCTCCAGCACTGGGGTGTGGGACACTCATCCCTAGAGACAGCCCATTCTGGGTTTGACAGTTTTGAGCCTTTGAAAAGTCCTTCCTTTCATCCAGTCAAACCCGTTTCCCTCTACCTCTCCAGCCTGCTTGGTGATATTTTCAGCTGTTAGAAATGACATTGATAGGTGACTGCTTCTGATATCGTCATGCCATAAATGAATTCAGACAGATCTTTTCTGTGTGATTGAATGAAAAAATATGTATAACCTGATGGTGTCAACGCAGAATCGTAGGCTTTTAGGGCTGGAAGGAGTCAGAGATTATGTGATGAGCTGCCCCTTCCCATTTTGTCATCAGTGACACTGAGACCTGGAGAAATCAAGTAACTTCTCCAGAGTCACACACATAGCTAGTAGCAGAAGCAGGACCAGAACCTGGTGGACAGACTGTCCACGCGAAGGCCACGTTTCTGTCCTGAGTGAGGTAGTGAAGAGAGAGACAAGGTATTGGCGTATTTCCTGTGGGGCCTGATAGGGAGGGAGGTGTGAGGGGCACGAGCAGTCTGAGTGTCTTGCAGGAGACCCTGAGGATGGGTGCCCCTTTGTCTTTCCAGATATTGCCAACAAAGTCCTCTTGGCTCTGTTCACCTGCGAGATGCTGGTAAAAATGTACAGCTTGGGCCTCCAAGCATATTTCGTCTCTCTTTTCAACCGGTTTGATTGCTTCGTGGTGTGTGGTGGAATCACTGAGACGATCTTGGTGGAACTGGAAATCATGTCTCCCCTGGGGATCTCTGTGTTTCGGTGTGTGCGCCTCTTAAGAATCTTCAAAGTGACCAGGTAAGGAAATGTGGGTCCCACTGCAAATGTTTTATGAACATGAGGCGGCAACCAGTCACATCCCCGGGCAGGTGATGTTCTGCTCTGTCCTGCATGGGTGTTCTGAGCTGACACCCTCATCTTGACTTATAGGCACTGGACTTCCCTGAGCAACTTAGTGGCATCCTTATTAAACTCCATGAAGTCCATCGCTTCGCTGTTGCTTCTGCTTTTTCTCTTCATTATCATCTTTTCCTTGCTTGGGATGCAGCTGTTTGGCGGCAAGTTTAATTTTGATGAAACGCAAACCAAGCGGAGCACCTTTGACAATTTCCCTCAAGCACTTCTCACAGTGTTCCAGGTGAGTCCTCCCTCCATTCCCCGAAAAGCACTTCGTGAGCAGCAGCTAAAACTCCTCTGCCTTCTTGTCTGCTCACACTCAGGAAGACAAAAGGACTCCATTTTTGTTCATCTCTGCCCTAATCATAGCCTGGTAAATTTTGTGCCATTTAAGTTATTCGTTCTGCATCATCCTCCAGCTGTCTATCTTAAGTGATGTAATTTTTTTAAAGACTTCTAGCTACATTACAAAATAATAAACCAAAAAAACCGTTTTTCACACTCAAGCTCTTCCAAGAAAACTTTTTGATTGATTTTATGAGGTTTCTTTGAAATAGACTCTAAAATTCTTTTCTCTTTGGTACTTTTTGATGGCAGGCCAGTTCATAATCCTAGTTATAATAGATTTACACAAGAAGTGAATTCTCATGCCTCCATGCTTTGGTGTGTAGTTGGAGGAATCAGAGTGGTAGGAACTGTGGCAGCCATTGGTCCCTTCTGTCCTCCTCCTGGGATGCAGTGAGGACACAAAGATTCTGAGGGTGCCTGTCCTGTGGGGCCTCTGCAGGCAGTAGCTGAGAAGGGAGCGGTGGTTGCAGAGAGGCACCGATGGCTCTGCTGCTCAGAGCAGCAGCACATGCTCCCCTGACTCTACGCTGAGGTGCTCAAAACCCTCCTCCTTGGACAGGGTCTGATGGGGAAGTTTAAAAGACCCACCTGTCCTCATTGCTTTTCCTGTGTGATGTGAGCTGCAGAGCCCTGCCAGAGAGGAAAGGCAGCAGACAGCTGGGTCCTGTGGTGGCCCTTTCCATGCCCAGCTCTCTGCTGTGGATGAGTCACTTACCCATTTCTGAAGAAATCCAGAGACCAAAGGGAATGATCTGGACAATTCTCTCCCACTTGGTCATTTTCAGGTATATATAATCTGCTGTAAGCCATAGTATTGTTGTTTGAATTATACTTAAATTTTGGCTGCTGATCAGTGATTCTTTTTTAAAAAAAAATTTCTTTCAGAGAAACTGGTGTCTTTTTTTTTTTTTGGTAATGCATGCATATGGCACAAAATTCTAATGTTACAAATGAATAATAATTCTCCCAGCCAGCCACAAATTTCCTCTTCTAGGAAGCAACCACCATTAAACAGTTTCTTGTGAATTCTTAGATCTGCATTTTCTGATAGCTACAACTCAGTTAAGCTACCTATAGGAGACTTTCCACAGACAGGAGCTCACTGTACGTGCTGTTTTGCATCTTGCTTTTATCACTTTGAGTGTCCTCAAGAGCCTTCCTGCTTGGTCCATAAAAGGCTGCCCCTCCTTTGAAACGCTGCGTCCATGCGGTGGTAGATGTGCCGTTGTTCATATGACCAGTCCCTTGCTGACAAGCATTGAGTTCTGTCTGGTCTTAGCCCACATACACAGGGCTCCAGTAGGTGACCCTGAACACGCATCAGAGGGCACATGTGTTGGCTGTAGATCTGTGGGATAAACTCCCAGAGATGGAATTGCTGCTTTAGAGGGTGTGTCCATTTTAAATGTTGACACACGTGCCCAAGTGCTCTCCTTATGGTTGTATTAGCTCATTGTCTTCACACTGCCCATTGCCTCACTGCCTCTCCCCTCAGTGGAGAGCATGCTTTGGGATGCCCATCAGTTAGGTGAAAATGGCATTTCATTGTACTTTTAAAAGATAC
ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAAGCGAAGTGGCTCTCTGCACTGATTGCATGAGCAGATCCACGTCCCATATGGTGGATATAGGAACTGCATATGTGTGCAAGTGTAGTTTTGCATCTGCACGTGAATCTATGAATATCTAGATTTTCTAACCCACTTAAGGGCTGCATATGACAGATTCTGGAGTTATCTATAAGCCATAAGGAAGGACTGATAGCATGATCAAGTCAAGATTATACTTTTAAAAGTCGCATTTTAAGACCAACATAATTTTTATGATGAAGTCTGTTAATTTCTGTGCCATTTGTGCTCATCTTTCTTTCCTGCACTCCCACCCCAATCTAGACCTCCAGAGTGAAAGCCAAATTATCTCTCAATCATATTTATTGGATACTCAGATGCTGTATCTGTCATCTACGTAGTAATGTTTGCTTGTCTTTTAGCCGACGCTGGCGTCGCTGGAACCGATTCAATCGCAGAAGATGTAGGGCCGCCGTGAAGTCTGTCACGTTTTACTGGCTGGTTATCGTCCTGGTGTTTCTGAACACCTTAACCATTTCCTCTGAGCACTACAATCAGCCAGATTGGTTGACACAGATTCAAGGTACAAGCAGAGGCCATTCCTTTTTTGTTCTGAACTAGAGATTTCTGTGGCTGTCCAACTGCCATTTGGTCTTATCTGATCGCTGCATGATGAAGTATCGCAACATTTCTAGTGAGGACAAACTTGGTAGAACCATCCAGACACAGCAACTACCAGAGCGAGGGTGCCATCTGTGCCGCGTGGTGAAGCACCTTGGAGCCACTTAATGCCAAGCATCTAATTGTCCTAACCCTGAGCCAACCTAGGACCAAGAATTCTTGAAGCTGGAAGGGACCTCGTAATCCCTGCTCCCTGCCCTCATCGGGGAAGCTTCATTTTCCCCTATAGTACTTCTGGCAAATGGTTTTGGTTCCCCTGCTTTGAATGCTCCAGCACTGGGGTGTGGGACACTCATCCCTAGAGACAGCCCATTCTGGGTTTGACAGTTTTGAGCCTTTGAAAAGTCCTTCCTTTCATCCAGTCAAACCCGTTTCCCTCTACCTCTCCAGCCTGCTTGGTGATATTTTCAGCTGTTAGAAATGACATTGATAGGTGACTGCTTCTGATATCGTCATGCCATAAATGAATTCAGACAGATCTTTTCTGTGTGATTGAATGAAAAAATATGTATAACCTGATGGTGTCAACGCAGAATCGTAGGCTTTTAGGGCTGGAAGGAGTCAGAGATTATGTGATGAGCTGCCCCTTCCCATTTTGTCATCAGTGACACTGAGACCTGGAGAAATCAAGTAACTTCTCCAGAGTCACACACATAGCTAGTAGCAGAAGCAGGACCAGAACCTGGTGGACAGACTGTCCACGCGAAGGCCACGTTTCTGTCCTGAGTGAGGTAGTGAAGAGAGAGACAAGGTATTGGCGTATTTCCTGTGGGGCCTGATAGGGAGGGAGGTGTGAGGGGCACGAGCAGTCTGAGTGTCTTGCAGGAGACCCTGAGGATGGGTGCCCCTTTGTCTTTCCAGATATTGCCAACAAAGTCCTCTTGGCTCTGTTCACCTGCGAGATGCTGGTAAAAATGTACAGCTTGGGCCTCCAAGCATATTTCGTCTCTCTTTTCAACCGGTTTGATTGCTTCGTGGTGTGTGGTGGAATCACTGAGACGATCTTGGTGGAACTGGAAATCATGTCTCCCCTGGGGATCTCTGTGTTTCCGTGTGTGCGCCTCTTAAGAATCTTCAAAGTGACCAGGTAAGGAAATGTGGGTCCCACTGCAAATGTTTTATGAACATGAGGCGGCAACCAGTCACATCCCCGGGCAGGTGATGTTCTGCTCTGTCCTGCATGGGTGTTCTGAGCTGACACCCTCATCTTGACTTATAGGCACTGGACTTCCCTGAGCAACTTAGTGGCATCCTTATTAAACTCCATGAAGTCCATCGCTTCGCTGTTGCTTCTGCTTTTTCTCTTCATTATCATCTTTTCCTTGCTTGGGATGCAGCTGTTTGGCGGCAAGTTTAATTTTGATGAAACGCAAACCAAGCGGAGCACCTTTGACAATTTCCCTCAAGCACTTCTCACAGTGTTCCAGGTGAGTCCTCCCTCCATTCCCCGAAAAGCACTTCGTGAGCAGCAGCTAAAACTCCTCTGCCTTCTTGTCTGCTCACACTCAGGAAGACAAAAGGACTCCATTTTTGTTCATCTCTGCCCTAATCATAGCCTGGTAAATTTTGTGCCATTTAAGTTATTCGTTCTGCATCATCCTCCAGCTGTCTATCTTAAGTGATGTAATTTTTTTAAAGACTTCTAGCTACATTACAAAATAATAAACCAAAAAAACCGTTTTTCACACTCAAGCTCTTCCAAGAAAACTTTTTGATTGATTTTATGAGGTTTCTTTGAAATAGACTCTAAAATTCTTTTCTCTTTGGTACTTTTTGATGGCAGGCCAGTTCATAATCCTAGTTATAATAGATTTACACAAGAAGTGAATTCTCATGCCTCCATGCTTTGGTGTGTAGTTGGAGGAATCAGAGTGGTAGGAACTGTGGCAGCCATTGGTCCCTTCTGTCCTCCTCCTGGGATGCAGTGAGGACACAAAGATTCTGAGGGTGCCTGTCCTGTGGGGCCTCTGCAGGCAGTAGCTGAGAAGGGAGCGGTGGTTGCAGAGAGGCACCGATGGCTCTGCTGCTCAGAGCAGCAGCACATGCTCCCCTGACTCTACGCTGAGGTGCTCAAAACCCTCCTCCTTGGACAGGGTCTGATGGGGAAGTTTAAAAGACCCACCTGTCCTCATTGCTTTTCCTGTGTGATGTGAGCTGCAGAGCCCTGCCAGAGAGGAAAGGCAGCAGACAGCTGGGTCCTGTGGTGGCCCTTTCCATGCCCAGCTCTCTGCTGTGGATGAGTCACTTACCCATTTCTGAAGAAATCCAGAGACCAAAGGGAATGATCTGGACAATTCTCTCCCACTTGGTCATTTTCAGGTATATATAATCTGCTGTAAGCCATAGTATTGTTGTTTGAATTATACTTAAATTTTGGCTGCTGATCAGTGATTCTTTTTTAAAAAAAAATTTCTTTCAGAGAAACTGGTGTCTTTTTTTTTTTTTGGTAATGCATGCATATGGCACAAAATTCTAATGTTACAAATGAATAATAATTCTCCCAGCCAGCCACAAATTTCCTCTTCTAGGAAGCAACCACCATTAAACAGTTTCTTGTGAATTCTTAGATCTGCATTTTCTGATAGCTACAACTCAGTTAAGCTACCTATAGGAGACTTTCCACAGACAGGAGCTCACTGTACGTGCTGTTTTGCATCTTGCTTTTATCACTTTGAGTGTCCTCAAGAGCCTTCCTGCTTGGTCCATAAAAGGCTGCCCCTCCTTTGAAACGCTGCGTCCATGCGGTGGTAGATGTGCCGTTGTTCATATGACCAGTCCCTTGCTGACAAGCATTGAGTTCTGTCTGGTCTTAGCCCACATACACAGGGCTCCAGTAGGTGACCCTGAACACGCATCAGAGGGCACATGTGTTGGCTGTAGATCTGTGGGATAAACTCCCAGAGATGGAATTGCTGCTTTAGAGGGTGTGTCCATTTTAAATGTTGACACACGTGCCCAAGTGCTCTCCTTATGGTTGTATTAGCTCATTGTCTTCACACTGCCCATTGCCTCACTGCCTCTCCCCTCAGTGGAGAGCATGCTTTGGGATGCCCATCAGTTAGGTGAAAATGGCATTTCATTGTACTTTTAAAAGATAC
Task1_train_7090
Assess the clinical impact of this variant on gene WNT5A (Wnt family member 5A), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Autosomal dominant Robinow syndrome 1
ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGATAAGCTAGCTGGAATTATCTACACGATCTTTGACTTCTCTATGTCCTTTGCCTATAATGTTTTAGAAGTTATCATCTATCAAGCACTTACTACTGGCGGACACTAAACTAAGACCTTTAATTAAACCAAATGAAATTGTTATTTTGTAATAAAAAAGAGTCAAGTGTTCACAATTTCACATGGTTCAACCTACTAGATGATCTCACTGAGGCCTCACAATAACCTCAGGTAATTGTAATTGCCATGGCCATTTAACAGATGTGGAAATGGGAAAACTGAGGCTCAGAAAAAGCAAAGAACAGACAACACTGCATTTTAACCCAGATTTCTCTAATTCCCGAACTGCTAGCTCTTCATCTCTTAGCTGTGATGCATGAATTCAATAAAAACGTACCTAGGCTTATATTTCCATTCTTTAATTTTCTTCCATGGTCATGAAGTGGTTTTCTGGGCCTCAGTTTCCTAGTCTTTCAAATGAGTGTGGGGCCAGAGTCTTCTAAGGCTCTGTCCAGTCCTCTACAGTTTACTCTGTGATTAACTTCCTTCTCCCTCACCCCAAAATACAGAAGAGTGAAATCTCTGACCAGAAAGTTCCTGGCACCTACCTTGGGTTCTGTGAAAAAATAATGGCCCTGGTTTTCAATGCTGCCAAAGTTAAGAAAAGTTTTCACCCCTTCATTTTAAAGCAGCCATAAAGTGCCATGTGTTTAACCGCAGGAAAAAAAGGGTCTTTTTAACTATTGAGAAGTAGCTTTTCATATCCCCACCAGGGGAAGGAAAGAGCGGGAACCAGGAGACTCGTGAGGACTGCAAAGATGGTCCTCCCTGGGTACTTCTGCTGCTCTCTTCTCTCCAGAGCTACTTTGTGATTGGCCTGATGGTCAGACCTATAAAATCCCACACTGCTAAAAATGCTGTCCTTTTCCTAGAAAAGCCCTTTTTTAAAAAAACCCTCCATCCATCAGGCCTGCTACCTAATGACATAAAGAGAGGCAGGGAGAAAGAAAGGAGGGAAAGAGCCTCAAAGCTGGGGTGAGGGCTTTCCCATCTGGGCACCTACGAAGACAGAAAAATCCCTGTCCCAAACTGAAAGCCAACCACAGACATCGTCCAGGCAGGAGGGAGAAAGTTATTCCCATTTTTATTTCTGTGCTCCAGTAGCCAAAGGTACCAGGGACTAACTAAGAAGGCAAGGAAAGGTCTTTTTCAGGCAACTGCTGGTTCACCTTGGCTGGGGGCGAAAGGGAGGATGATCCGCCCAGGAGGCCCTTCTGGGATGTGCAGGGGCAACTATGGAGACAGATGGAGGAAAGAGAGGTAGACAAAGGGGGAGAAGAGAGAGACCGGGAAGGAGGAAAGGAAGGGAAGAGGGAGAAAGAAAGTGAGACGGGAACAGGATGAGGAGGAAAGAGACAGGAAAGACAGAGAAAGATAGGGAGAGACAGAAAGAGAAGCAGAGAGATAGAGACAGGACCATATAGCAAAGGAGTGGCAGAGGAGAGGACGGAGCTACAGGGAGAGACCCGAGGAGGCTGGAGGGCAAGGTGAGAAGACAGAGATGCGGGGCGGGGGCGAGACGCGGCACTCACCCTGCGGCCGGCCTCGTTGTTGTGCAGGTTCATGAGGATGCGAGCACTCTCGTAGGAGCCCTTGGCGTGGATGCGCTCCCGCTCGCGGGCGTCCACGAACTCCTTGGCAAAGCGGTAGCCATAGTCGATGTTGTCGCCGCAGCCGCCCCAGAGCCAGTCCCGCGGCAGGTCCTTGGGGCGCGCGGCGCGGCTGCAGCCGCAGGTGGACAGCTCGCCCTCGCGGCACGCCCGGCTCATGGCGTTCACCACCCCTGCTGCGCTCACCGCGTATGTGAAGGCCGTCTCGCGGCTGCCTGTGGGTGAGGACAAGGGATCACTGGCCGCCTGCCTCACGCGCTGGGCCGGGATGCTGCCGGGGGTGGGGGTGGGGGCAAGGTAGGGAATGGTGGGGAGGTAGGAGGTGGGGGGCAAGGTAGAGATGGAGGGGAGGTAGGAGGTGGGGTTGGGGCGAGGTAGGGAGGGGGGAGGTAGGAGGTGGGGGAGGTTGGAGGTTGGGGGGAAGTAGGAGGTGGGGAAGCAAGAATAGTGGGGAGGTAGAAGGTGGGGGGCAGGTAGGGCTGGGGGGAGGTTGGGGTAGAGGGTAGGGAGTAGGAGATGGGGGGGTAGGGGGTAGGGGATCAATAAGGTAAAAGCTCGGGCTGCCCCATCCTTAACACGCACCAGGCCCTGGGCCCAGCTTGAGGGGAAGCCAAGCAAGATCCCCCAAAACACACAGAAGCAACAATTAACAAAGGAGTAGCAGATCCCCAGTATCTCTGCTCAGCCATTTCAGAGCTGCAGGCCAGATTCTAAGCAGTGCTGGATTGATTTTCTCTGCAACTCTTTTGAAAATAGTCAAAACTTGCTATTTGCAAAAATGCACATGAAAGAAGTCATTGAAGGAACACTCAGAATATGGGTAGACTTCCTTACACTTATTTTAATATTAAGTATTATTTTCATTTGAGTTACATATAAGGCAGGATTACAGAATTTGCTAGGCCTTGAATCTAAGGGAGACACTGCCAGCGGCCACACTAGTTTCTGCCACACTCATTTTGGCCTTGTGTCCCCTCCTCCTCTGGCAGTTGTAACCTCTCCTCCCTCTTCCTTCATGCAGCAGAAAGTATTTCTCAGGACAAGTCTCTTTACTTTCCCAGAGGACAATTCTAAATCAGCTCATAGAGAGTTATAAATGAAGCTTGCTATTCTTAAATCCCAGGCTCATTGGCCTGATACTTCTCATTCAAGAATGAGTGTCTGCTTTTAAAACAGCCTGTTGTTCTTCAATGCCACTTCTGCAGACACCCCCTGCCCACTCCCCCACTGCCTTTGCCACAAAGTGTTAGAATGACAGCAAGAAGGAAAAAAGCACAACCTATGGGGAAAAGAGGGAGGGAGAAGTTTTCTTCTTCCCAAAACTAGTAAAGAATATCTCCCCATATAATAGTTACAGGGACCCTATTTGTAAGGAGAAAACTGGAGGCTATCATAGAGTACCCTAAACTTCGCTTGTACATGGAGACATTTCTGCATGTAACAAGAGCTAGTTAATAAAAGTACTGTAATCTGAGAGAGAAAGGGTTATCATCCAGCCAGCTGAAGCGTGGGGTAGGGGTGGGATTGGGGGGCAGGCTCACTTTCCTCAATTGCAAAATAAGGGTACTGAAATACATGCAAGGAAAGGGGCCTCTTCTGGTGCTGAAATTCATGTACCGCAATCAGTTTATCCTATACTTACTTTGAGAGCTTGCTAACAATCTTTTTTCTGAGGGGGAAGTGAGGAGCACAAGAAAAGCTGACAACAGGACTCAGTCTGAACGAGAAGGGTCATTCTGCAGGAGGACAGCGATGCCAGTTTAAGCATCCAGCAGGCCACCTCATTCTTGGTCTTCTGCTCCATGCCAGTCACAGCCATTTGTGAATGGTGATGGTTCTGATTTACCATATATCCTCCCCCTCCCATATTTTCAAAATGAATGACTTGAAGGTGTGTGCTGGTGGTTGGCAGGAGGATCTAGAAAGTTCCTGTGATGCGTTACACCTATCTAGCGGGATTAGAGAGGCAGAGCACATCAGGGGAATGGAAAGGAATGAGGACAATATACAGCTTCTAGGGAGTAATTTGATAGTACAGAAAATGCTGTGGCCCTGGATGGGGGATTTGTAGAACAAAGTAGCTAGAGGAAGAGGAGATGAAGAGGAGATG
ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGATAAGCTAGCTGGAATTATCTACACGATCTTTGACTTCTCTATGTCCTTTGCCTATAATGTTTTAGAAGTTATCATCTATCAAGCACTTACTACTGGCGGACACTAAACTAAGACCTTTAATTAAACCAAATGAAATTGTTATTTTGTAATAAAAAAGAGTCAAGTGTTCACAATTTCACATGGTTCAACCTACTAGATGATCTCACTGAGGCCTCACAATAACCTCAGGTAATTGTAATTGCCATGGCCATTTAACAGATGTGGAAATGGGAAAACTGAGGCTCAGAAAAAGCAAAGAACAGACAACACTGCATTTTAACCCAGATTTCTCTAATTCCCGAACTGCTAGCTCTTCATCTCTTAGCTGTGATGCATGAATTCAATAAAAACGTACCTAGGCTTATATTTCCATTCTTTAATTTTCTTCCATGGTCATGAAGTGGTTTTCTGGGCCTCAGTTTCCTAGTCTTTCAAATGAGTGTGGGGCCAGAGTCTTCTAAGGCTCTGTCCAGTCCTCTACAGTTTACTCTGTGATTAACTTCCTTCTCCCTCACCCCAAAATACAGAAGAGTGAAATCTCTGACCAGAAAGTTCCTGGCACCTACCTTGGGTTCTGTGAAAAAATAATGGCCCTGGTTTTCAATGCTGCCAAAGTTAAGAAAAGTTTTCACCCCTTCATTTTAAAGCAGCCATAAAGTGCCATGTGTTTAACCGCAGGAAAAAAAGGGTCTTTTTAACTATTGAGAAGTAGCTTTTCATATCCCCACCAGGGGAAGGAAAGAGCGGGAACCAGGAGACTCGTGAGGACTGCAAAGATGGTCCTCCCTGGGTACTTCTGCTGCTCTCTTCTCTCCAGAGCTACTTTGTGATTGGCCTGATGGTCAGACCTATAAAATCCCACACTGCTAAAAATGCTGTCCTTTTCCTAGAAAAGCCCTTTTTTAAAAAAACCCTCCATCCATCAGGCCTGCTACCTAATGACATAAAGAGAGGCAGGGAGAAAGAAAGGAGGGAAAGAGCCTCAAAGCTGGGGTGAGGGCTTTCCCATCTGGGCACCTACGAAGACAGAAAAATCCCTGTCCCAAACTGAAAGCCAACCACAGACATCGTCCAGGCAGGAGGGAGAAAGTTATTCCCATTTTTATTTCTGTGCTCCAGTAGCCAAAGGTACCAGGGACTAACTAAGAAGGCAAGGAAAGGTCTTTTTCAGGCAACTGCTGGTTCACCTTGGCTGGGGGCGAAAGGGAGGATGATCCGCCCAGGAGGCCCTTCTGGGATGTGCAGGGGCAACTATGGAGACAGATGGAGGAAAGAGAGGTAGACAAAGGGGGAGAAGAGAGAGACCGGGAAGGAGGAAAGGAAGGGAAGAGGGAGAAAGAAAGTGAGACGGGAACAGGATGAGGAGGAAAGAGACAGGAAAGACAGAGAAAGATAGGGAGAGACAGAAAGAGAAGCAGAGAGATAGAGACAGGACCATATAGCAAAGGAGTGGCAGAGGAGAGGACGGAGCTACAGGGAGAGACCCGAGGAGGCTGGAGGGCAAGGTGAGAAGACAGAGATGCGGGGCGGGGGCGAGACGCGGCACTCACCCTGCGGCCGGCCTCGTTGTTGTGCAGGTTCATGAGGATGCGAGCACTCTCGTAGGAGCCCTTGGCGTGGATGCGCTCCCGCTCGCGGGCGTCCACGAACTCCTTGGCAAAGCGGTAGCCATAGTCGATGTTGTCGCCGCGGCCGCCCCAGAGCCAGTCCCGCGGCAGGTCCTTGGGGCGCGCGGCGCGGCTGCAGCCGCAGGTGGACAGCTCGCCCTCGCGGCACGCCCGGCTCATGGCGTTCACCACCCCTGCTGCGCTCACCGCGTATGTGAAGGCCGTCTCGCGGCTGCCTGTGGGTGAGGACAAGGGATCACTGGCCGCCTGCCTCACGCGCTGGGCCGGGATGCTGCCGGGGGTGGGGGTGGGGGCAAGGTAGGGAATGGTGGGGAGGTAGGAGGTGGGGGGCAAGGTAGAGATGGAGGGGAGGTAGGAGGTGGGGTTGGGGCGAGGTAGGGAGGGGGGAGGTAGGAGGTGGGGGAGGTTGGAGGTTGGGGGGAAGTAGGAGGTGGGGAAGCAAGAATAGTGGGGAGGTAGAAGGTGGGGGGCAGGTAGGGCTGGGGGGAGGTTGGGGTAGAGGGTAGGGAGTAGGAGATGGGGGGGTAGGGGGTAGGGGATCAATAAGGTAAAAGCTCGGGCTGCCCCATCCTTAACACGCACCAGGCCCTGGGCCCAGCTTGAGGGGAAGCCAAGCAAGATCCCCCAAAACACACAGAAGCAACAATTAACAAAGGAGTAGCAGATCCCCAGTATCTCTGCTCAGCCATTTCAGAGCTGCAGGCCAGATTCTAAGCAGTGCTGGATTGATTTTCTCTGCAACTCTTTTGAAAATAGTCAAAACTTGCTATTTGCAAAAATGCACATGAAAGAAGTCATTGAAGGAACACTCAGAATATGGGTAGACTTCCTTACACTTATTTTAATATTAAGTATTATTTTCATTTGAGTTACATATAAGGCAGGATTACAGAATTTGCTAGGCCTTGAATCTAAGGGAGACACTGCCAGCGGCCACACTAGTTTCTGCCACACTCATTTTGGCCTTGTGTCCCCTCCTCCTCTGGCAGTTGTAACCTCTCCTCCCTCTTCCTTCATGCAGCAGAAAGTATTTCTCAGGACAAGTCTCTTTACTTTCCCAGAGGACAATTCTAAATCAGCTCATAGAGAGTTATAAATGAAGCTTGCTATTCTTAAATCCCAGGCTCATTGGCCTGATACTTCTCATTCAAGAATGAGTGTCTGCTTTTAAAACAGCCTGTTGTTCTTCAATGCCACTTCTGCAGACACCCCCTGCCCACTCCCCCACTGCCTTTGCCACAAAGTGTTAGAATGACAGCAAGAAGGAAAAAAGCACAACCTATGGGGAAAAGAGGGAGGGAGAAGTTTTCTTCTTCCCAAAACTAGTAAAGAATATCTCCCCATATAATAGTTACAGGGACCCTATTTGTAAGGAGAAAACTGGAGGCTATCATAGAGTACCCTAAACTTCGCTTGTACATGGAGACATTTCTGCATGTAACAAGAGCTAGTTAATAAAAGTACTGTAATCTGAGAGAGAAAGGGTTATCATCCAGCCAGCTGAAGCGTGGGGTAGGGGTGGGATTGGGGGGCAGGCTCACTTTCCTCAATTGCAAAATAAGGGTACTGAAATACATGCAAGGAAAGGGGCCTCTTCTGGTGCTGAAATTCATGTACCGCAATCAGTTTATCCTATACTTACTTTGAGAGCTTGCTAACAATCTTTTTTCTGAGGGGGAAGTGAGGAGCACAAGAAAAGCTGACAACAGGACTCAGTCTGAACGAGAAGGGTCATTCTGCAGGAGGACAGCGATGCCAGTTTAAGCATCCAGCAGGCCACCTCATTCTTGGTCTTCTGCTCCATGCCAGTCACAGCCATTTGTGAATGGTGATGGTTCTGATTTACCATATATCCTCCCCCTCCCATATTTTCAAAATGAATGACTTGAAGGTGTGTGCTGGTGGTTGGCAGGAGGATCTAGAAAGTTCCTGTGATGCGTTACACCTATCTAGCGGGATTAGAGAGGCAGAGCACATCAGGGGAATGGAAAGGAATGAGGACAATATACAGCTTCTAGGGAGTAATTTGATAGTACAGAAAATGCTGTGGCCCTGGATGGGGGATTTGTAGAACAAAGTAGCTAGAGGAAGAGGAGATGAAGAGGAGATG
Task1_train_7091
The gene WNT5A (Wnt family member 5A) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGC
AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGACACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGC
Task1_train_7092
A variant found in Chromosome 3 affects WNT5A (Wnt family member 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Autosomal dominant Robinow syndrome 1
GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCG
GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGGACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCG
Task1_train_7093
This variant affects the gene WNT5A (Wnt family member 5A) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal dominant Robinow syndrome 1
TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCGGGGACCAGCGCGCGAGAGTGCCCAGCTGGGAAATGCAGCTCC
TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGAAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCGGGGACCAGCGCGCGAGAGTGCCCAGCTGGGAAATGCAGCTCC
Task1_train_7094
This gene mutation involves IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia
ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGCAAGGGAGAACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCC
ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGCAAGGGAGAACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTTGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCC
Task1_train_7095
A sequence alteration has been identified in IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia
AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCCTTAATCAGTTTGGGATTCCAGACAATGTTTTATTTATCATCCTTTTCTAGTTCCAAATTTTCTACAATAACTATTACACTAATAACTGGAAGAGCGTTTTCCCCAGAGGCTAAATACTTGTGAAGTAGAGCAAACTTGGTTGCCCGTGGTATCTGAAAACTGTGTGCCATTGGCTAGAGTGTAGTTATTTTTCAGCACGTGCTGATCCACCAACCTCACGCTTTCATGCAGAGGGAAACTAGGCTAGCGTAGTATGTTATGTTGACACTAGGGGGCAGCCTCACCACATGGAGAGATTCTGAAAAACATGCCAATGGGCAGTTTCAA
AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACAAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCCTTAATCAGTTTGGGATTCCAGACAATGTTTTATTTATCATCCTTTTCTAGTTCCAAATTTTCTACAATAACTATTACACTAATAACTGGAAGAGCGTTTTCCCCAGAGGCTAAATACTTGTGAAGTAGAGCAAACTTGGTTGCCCGTGGTATCTGAAAACTGTGTGCCATTGGCTAGAGTGTAGTTATTTTTCAGCACGTGCTGATCCACCAACCTCACGCTTTCATGCAGAGGGAAACTAGGCTAGCGTAGTATGTTATGTTGACACTAGGGGGCAGCCTCACCACATGGAGAGATTCTGAAAAACATGCCAATGGGCAGTTTCAA
Task1_train_7096
The gene HESX1 (HESX homeobox 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
Task1_train_7097
This genomic variant is located on Chromosome 3, within the HESX1 (HESX homeobox 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Septo-optic dysplasia sequence
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
Task1_train_7098
The gene HESX1 (HESX homeobox 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Inborn genetic diseases
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
Task1_train_7099
This is a variant in HESX1 (HESX homeobox 1), located on Chromosome 3. Is this mutation a likely cause of disease or not?
Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGGG
CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACACCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGGG