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_22600
Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Regional enteritis
AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGG
AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACAAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGG
Task1_train_22601
This mutation occurs in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Blau syndrome
CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAA
CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCTTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAA
Task1_train_22602
Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Blau syndrome
GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTG
GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATACCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTG
Task1_train_22603
An alteration has been detected in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Blau syndrome
CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACA
CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCTCCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACA
Task1_train_22604
This is a variant in NOD2 (nucleotide binding oligomerization domain containing 2), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Regional enteritis
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
Task1_train_22605
This variant impacts the gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Blau syndrome
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
Task1_train_22606
This gene mutation involves NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Blau syndrome
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
Task1_train_22607
This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inflammatory bowel disease 1
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
Task1_train_22608
This alteration occurs within gene NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Blau syndrome
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
Task1_train_22609
Given a variant located on Chromosome 16 and affecting NOD2 (nucleotide binding oligomerization domain containing 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Regional enteritis
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
Task1_train_22610
Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Regional enteritis
TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAAACTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
Task1_train_22611
This variant affects the gene NOD2 (nucleotide binding oligomerization domain containing 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Blau syndrome
TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAAACTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
Task1_train_22612
This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Behcet disease
TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTC
TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCTTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTC
Task1_train_22613
A variant was discovered on Chromosome 16, affecting NOD2 (nucleotide binding oligomerization domain containing 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Behcet disease
ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTCCATCTCTGGAATTCTTGAATGGATCATCCATCCTTGATTAGGGATGTCCCCGTGATTACCAGGGTGTGCAGAAGGGCTCTGGGAAACCTGTGGGTCTGTCTCTGTGTTCAGAGAAAGGTGAGGGTGGCCTGGTTCTAGCTCATGGTGCTCAGACTGTGGTGTGTAAAGGCACTCGTGGCAATGCAGATTCCTGGGCCTGCCTCTAGTGATTCCCATTCAGTAGGTTTGGGGTGGGGCCCAGGAAATCTA
ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTATCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTCCATCTCTGGAATTCTTGAATGGATCATCCATCCTTGATTAGGGATGTCCCCGTGATTACCAGGGTGTGCAGAAGGGCTCTGGGAAACCTGTGGGTCTGTCTCTGTGTTCAGAGAAAGGTGAGGGTGGCCTGGTTCTAGCTCATGGTGCTCAGACTGTGGTGTGTAAAGGCACTCGTGGCAATGCAGATTCCTGGGCCTGCCTCTAGTGATTCCCATTCAGTAGGTTTGGGGTGGGGCCCAGGAAATCTA
Task1_train_22614
The variant affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Brooke-Spiegler syndrome
CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGCAGATTTTAGATTTTCAGTTTCTTATAAATTCCCTTTCCCATTTCCCTTGGTGGCTGTTTCACACTTCAGTATTAAAAGGATATTCTCTCTCAAAATTGTATATTCTGCTTTATAAAGTAAATGCTTTAATTTCCCAAGCAAATATTATTTAAAAAATCAGTCACAGCAAACCTAAAAATTTTTTATCTTAGTGTATGACAGTTACTTGTAGAGCATATAATAGTGTCTAGGATAATTCTGGTTCTAGATCTTTAATTTTGCAAACTTCAAGAAGAAGCTTATCATTGTTTTCTTCAAAAATAATTGTCTAACCTATTGATTTATGACATACTGGAGTTGTATAAGAAATGTGTTGGCCAGGTGTGGTGGCGCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACGCCTGTAATTCCAGCTACTTTGGTGGCTGAGGCATGAGAATCTCTTGAGCCTGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACACTCCAGCCTGAGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAGAAAAAAAGAAATATGTGATTAAGATGTGTTATATAATTTAATACATGCCAATATCAATTAATAGTTTTTTACTAACTTAGATATGGATATGTGTGTGCCACAAAAATTATGAAACTGAGGAAAATACTTGAAAAGGTGGAGGCTGCATCAGGATTTACCTCTGAAGAAAAAGGTGACCATCTTAACTTATATGCGTTAAAAATAACTGAAGAGCATATTCACATGTCAAAGTATTAGCTGAAATGTGTGTCTGTGTAGTTGGGGGGTTTTCTTTTAAATTAGAAATTTCTTTTTATGTGATATATGGTTAGCTCCTCTTTTTGTAAATTCTTCCTCTCTTCTAAAAGTGATTGATGATGTGGAATAATGAACTCCTTTAAGAAGCTGGCTGGTTCTAGTATATTAAATGCTTAAATAAAAAGTCCTTTCCTTTCCACCTAGCAATGATATTCTCAGTTGTTTCTCTCTTGTGGTGCAGAGTTGCATTGGGTTTTCTACATTTTCCCACTGAGTCTTCCCTGTTGTAAAAGGGAGTTAGAAAGCTGCTAACTAGGATTAAGTTTATAGTCAGGGAACAGTGTTATAATCTCTTCCTAGCTAATGGGCTTACTCAAAGATTCACCACCTGACTTTGAATTTGTCAGCAGCATACTGTAAACAGCTGTAATGTTCAGAGGCTTGCAGGAAAAAACAGAGCATACTTCAGATTGTACTCCATTTACCTTAACCCCTCCAAAGGAAATAACAGCTATTTCATTATGTGCAATGTGTTACACCCTTTCAAATGTAATAAACTCACAACAAAATTGAAACATAATACTTGATTATAACTTATTAAATGTCTTTTATGTTTTTCCTTTGTCAGGAAAACTTGAAAACTGTGCTTTTAATTGAAATAATATTGGATGAATGAAACTGAATTCAGTATTAAAATTTGACTGTTAGAAATGAAAAATAAAATGATTTAAAAATTTTGCCTGTGACTTATTTGATTTTTAAATTTTCTCCTAGATCCTGAGGAATTCTTGAATATTCTGTTTCATCATATTTTAAGGGTAGAACCTTTGCTAAAAATAAGGTAACCTTTAAATTGTTCTAGAAGCATTGGAAAAATAGACAATTCTCATTTCTACTGCCATTATTCAACAGACATGATTTCCAGAATGATTTCTTAATATTGTATTTGTTTAGGGCTCTTAATAGGCTAGGGGAATATCATGCAAGTTAATTTTATTTGTTGTCCTTGCCACAGTACCATAGTTTACTTGAAGATCAAATCCAATGTAAATTTATACTACAATTTTTAACCCTAGCGATAAGTATTATTGCAAATCATTTTCTTTTGAAACTGTATATATATTTTCATAATTTCAATTAATGAACCTTTTAAGAAAAAATATCTCATTCTAACTTAATCAGACACTTCAAGAAGACTGTTTTCTGTCTACTCATCACTCAAAAAATTTAGTCTTAAATTAGCTTTCCTGTTTTTAGTTGTATAACTTTGTCTCCCCTCCCCACCCACCATGTTGAATGAAAGCCTTGTTTAATGTAGTAAAGTTCTTAATGAAATGTTCTAAATGACTGAACGTTCCAGGTAGTTTGAATGTTCTCAGTCTAAACAATGGACCTTTTTACATTTTAGCTTGGGTTTCTCTGTTGAGAATCTTAGTAATATCCTATACACTTCCCTAAAAGCTAAGCATAGACGAGCACTCTTCCTCATCTCTGTGTCTTAAAGTGATATTGTTTGATGCCACTGTTGAACTGATGGGTGAGGAGAATAGAGGGAGGCTGGGTGGTGCCATGGCTGTGGTTTGATATTGTTTGGGAAGTTCTTATGAATGAAATGAGACTGATACATAACCATCAAGAGTTCATATTATCTGTTCAAAGATGATAATAGCCATATGTACACCTAAAAATCCTAGAGAATGGCCTAAAAATTACTACAATTAGCAAAATAATTCATAATTTGTCTATGTAAAATATCCATGGAAAAATCAATAGCATTTCTGTATACCTTCAAGCAAATATGAAAAAGTAATTTAATACTTCATGAAAGTATAAAATACCAAGAAATCAATTTTATTGAGATAGATTTTTTTTAAAAGACTTATACAGAGCTAAAAGGGTTTTGATTAATTAGTGAGAAAGATTACGTTCTGGGTAGGACAATTAAATAATTTAAAGATGATTACATAATAATTTGCACACAAGCAAGATCTTAACATACTTCAGGAAAGTGGATTTAGAGTTCTCTACAAAATGAAGTGGGAAAAAATCTTGAAGAATGCTTTTAAAATAGATTTCTATTATAAGCTACGAAGGCAAAGCAATAGACTTTAAAATAGTGTGTGATACTAGCATATGATTAGAAATATGGATCAATGGGGCCAAATAGAAAGCTCAGAAATAGAATTAACTGTATGTAGAATTTCAGTATCTTATAAGTCAACTTTCAAACAGAAATGGGAAAGGAAAGATATGTTTAATACATGATGTAGGAAACCTAGAAGGCACTTTGGGAGAAAAAAGTCAATTTGGTTTTTCATTTTAAAGAGATAAATTTCAGATGCTTAAAACAGTTGTTTTCATCGTTTTTACCCTTTTTCTAGCCTACACACTTATGGAATGTAATACACGCCCAGTAATAACATAGGTTGAATACTGAGTGATCCTCAGAGTGGGTAGGGAGGGATCAGGGCATCTCTGAATATATCTCAGAGTCTGAATGCCTTGTGGGACTTGAAAGGGCCCTGGGAAGTTCTTACACCCCCTGAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTT
CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGCAGATTTTAGATTTTCAGTTTCTTATAAATTCCCTTTCCCATTTCCCTTGGTGGCTGTTTCACACTTCAGTATTAAAAGGATATTCTCTCTCAAAATTGTATATTCTGCTTTATAAAGTAAATGCTTTAATTTCCCAAGCAAATATTATTTAAAAAATCAGTCACAGCAAACCTAAAAATTTTTTATCTTAGTGTATGACAGTTACTTGTAGAGCATATAATAGTGTCTAGGATAATTCTGGTTCTAGATCTTTAATTTTGCAAACTTCAAGAAGAAGCTTATCATTGTTTTCTTCAAAAATAATTGTCTAACCTATTGATTTATGACATACTGGAGTTGTATAAGAAATGTGTTGGCCAGGTGTGGTGGCGCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACGCCTGTAATTCCAGCTACTTTGGTGGCTGAGGCATGAGAATCTCTTGAGCCTGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACACTCCAGCCTGAGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAGAAAAAAAGAAATATGTGATTAAGATGTGTTATATAATTTAATACATGCCAATATCAATTAATAGTTTTTTACTAACTTAGATATGGATATGTGTGTGCCACAAAAATTATGAAACTGAGGAAAATACTTGAAAAGGTGGAGGCTGCATCAGGATTTACCTCTGAAGAAAAAGGTGACCATCTTAACTTATATGCGTTAAAAATAACTGAAGAGCATATTCACATGTCAAAGTATTAGCTGAAATGTGTGTCTGTGTAGTTGGGGGGTTTTCTTTTAAATTAGAAATTTCTTTTTATGTGATATATGGTTAGCTCCTCTTTTTGTAAATTCTTCCTCTCTTCTAAAAGTGATTGATGATGTGGAATAATGAACTCCTTTAAGAAGCTGGCTGGTTCTAGTATATTAAATGCTTAAATAAAAAGTCCTTTCCTTTCCACCTAGCAATGATATTCTCAGTTGTTTCTCTCTTGTGGTGCAGAGTTGCATTGGGTTTTCTACATTTTCCCACTGAGTCTTCCCTGTTGTAAAAGGGAGTTAGAAAGCTGCTAACTAGGATTAAGTTTATAGTCAGGGAACAGTGTTATAATCTCTTCCTAGCTAATGGGCTTACTCAAAGATTCACCACCTGACTTTGAATTTGTCAGCAGCATACTGTAAACAGCTGTAATGTTCAGAGGCTTGCAGGAAAAAACAGAGCATACTTCAGATTGTACTCCATTTACCTTAACCCCTCCAAAGGAAATAACAGCTATTTCATTATGTGCAATGTGTTACACCCTTTCAAATGTAATAAACTCACAACAAAATTGAAACATAATACTTGATTATAACTTATTAAATGTCTTTTATGTTTTTCCTTTGTCAGGAAAACTTGAAAACTGTGCTTTTAATTGAAATAATATTGGATGAATGAAACTGAATTCAGTATTAAAATTTGACTGTTAGAAATGAAAAATAAAATGATTTAAAAATTTTGCCTGTGACTTATTTGATTTTTAAATTTTCTCCTAGATCCTGAGGAATTCTTGAATATTCTGTTTCATCATATTTTAAGGGTAGAACCTTTGCTAAAAATAAAGTAACCTTTAAATTGTTCTAGAAGCATTGGAAAAATAGACAATTCTCATTTCTACTGCCATTATTCAACAGACATGATTTCCAGAATGATTTCTTAATATTGTATTTGTTTAGGGCTCTTAATAGGCTAGGGGAATATCATGCAAGTTAATTTTATTTGTTGTCCTTGCCACAGTACCATAGTTTACTTGAAGATCAAATCCAATGTAAATTTATACTACAATTTTTAACCCTAGCGATAAGTATTATTGCAAATCATTTTCTTTTGAAACTGTATATATATTTTCATAATTTCAATTAATGAACCTTTTAAGAAAAAATATCTCATTCTAACTTAATCAGACACTTCAAGAAGACTGTTTTCTGTCTACTCATCACTCAAAAAATTTAGTCTTAAATTAGCTTTCCTGTTTTTAGTTGTATAACTTTGTCTCCCCTCCCCACCCACCATGTTGAATGAAAGCCTTGTTTAATGTAGTAAAGTTCTTAATGAAATGTTCTAAATGACTGAACGTTCCAGGTAGTTTGAATGTTCTCAGTCTAAACAATGGACCTTTTTACATTTTAGCTTGGGTTTCTCTGTTGAGAATCTTAGTAATATCCTATACACTTCCCTAAAAGCTAAGCATAGACGAGCACTCTTCCTCATCTCTGTGTCTTAAAGTGATATTGTTTGATGCCACTGTTGAACTGATGGGTGAGGAGAATAGAGGGAGGCTGGGTGGTGCCATGGCTGTGGTTTGATATTGTTTGGGAAGTTCTTATGAATGAAATGAGACTGATACATAACCATCAAGAGTTCATATTATCTGTTCAAAGATGATAATAGCCATATGTACACCTAAAAATCCTAGAGAATGGCCTAAAAATTACTACAATTAGCAAAATAATTCATAATTTGTCTATGTAAAATATCCATGGAAAAATCAATAGCATTTCTGTATACCTTCAAGCAAATATGAAAAAGTAATTTAATACTTCATGAAAGTATAAAATACCAAGAAATCAATTTTATTGAGATAGATTTTTTTTAAAAGACTTATACAGAGCTAAAAGGGTTTTGATTAATTAGTGAGAAAGATTACGTTCTGGGTAGGACAATTAAATAATTTAAAGATGATTACATAATAATTTGCACACAAGCAAGATCTTAACATACTTCAGGAAAGTGGATTTAGAGTTCTCTACAAAATGAAGTGGGAAAAAATCTTGAAGAATGCTTTTAAAATAGATTTCTATTATAAGCTACGAAGGCAAAGCAATAGACTTTAAAATAGTGTGTGATACTAGCATATGATTAGAAATATGGATCAATGGGGCCAAATAGAAAGCTCAGAAATAGAATTAACTGTATGTAGAATTTCAGTATCTTATAAGTCAACTTTCAAACAGAAATGGGAAAGGAAAGATATGTTTAATACATGATGTAGGAAACCTAGAAGGCACTTTGGGAGAAAAAAGTCAATTTGGTTTTTCATTTTAAAGAGATAAATTTCAGATGCTTAAAACAGTTGTTTTCATCGTTTTTACCCTTTTTCTAGCCTACACACTTATGGAATGTAATACACGCCCAGTAATAACATAGGTTGAATACTGAGTGATCCTCAGAGTGGGTAGGGAGGGATCAGGGCATCTCTGAATATATCTCAGAGTCTGAATGCCTTGTGGGACTTGAAAGGGCCCTGGGAAGTTCTTACACCCCCTGAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTT
Task1_train_22615
A change on Chromosome 16 affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAAC
GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTGTGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAAC
Task1_train_22616
Located on Chromosome 16, this mutation impacts CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Brooke-Spiegler syndrome
GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGGGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
Task1_train_22617
This alteration occurs within gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Familial multiple trichoepitheliomata
GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGGGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
Task1_train_22618
This alteration occurs within gene RPGRIP1L (RPGRIP1 like) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Joubert syndrome 7
TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTT
TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGGTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTT
Task1_train_22619
Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Joubert syndrome 7
GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTT
GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGGAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTT
Task1_train_22620
Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Joubert syndrome 7
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22621
Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Joubert syndrome and related disorders
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22622
The gene RPGRIP1L (RPGRIP1 like), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Meckel-Gruber syndrome
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22623
Mutation context: Chromosome 16, Gene RPGRIP1L (RPGRIP1 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Familial aplasia of the vermis
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22624
A variant affecting Chromosome 16, within the gene RPGRIP1L (RPGRIP1 like), has been observed. Determine if it's benign or associated with disease.
Pathogenic; COACH syndrome 3
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22625
Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Joubert syndrome 7
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22626
Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Meckel syndrome, type 5
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
Task1_train_22627
The variant affects gene RPGRIP1L (RPGRIP1 like), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Familial aplasia of the vermis
CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACTGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACCGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
Task1_train_22628
A genomic change on Chromosome 16 affects RPGRIP1L (RPGRIP1 like). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Meckel-Gruber syndrome
CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACTGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACCGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
Task1_train_22629
This sequence variant lies in FTO (FTO alpha-ketoglutarate dependent dioxygenase) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Lethal polymalformative syndrome, Boissel type
CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTT
CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCAGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTT
Task1_train_22630
Mutation context: Chromosome 16, Gene FTO (FTO alpha-ketoglutarate dependent dioxygenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Lethal polymalformative syndrome, Boissel type
CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTTTGCCATATT
CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTTCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTTTGCCATATT
Task1_train_22631
This sequence variant lies in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Craniofacial dysplasia - osteopenia syndrome
GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCT
GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGCCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCT
Task1_train_22632
Given this context: Chromosome 16, gene IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Craniofacial dysplasia - osteopenia syndrome
CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCT
CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAAAGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCT
Task1_train_22633
A mutation found in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Craniofacial dysplasia - osteopenia syndrome
GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCTGGTGA
GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCACCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCTGGTGA
Task1_train_22634
A variant found in Chromosome 16 affects MMP2 (matrix metallopeptidase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Multicentric osteolysis nodulosis arthropathy spectrum
CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTG
CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCATGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTG
Task1_train_22635
The gene MMP2 (matrix metallopeptidase 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy
TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTGT
TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACACTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTGT
Task1_train_22636
Given this variant in gene MMP2 (matrix metallopeptidase 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy
AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCCTTCCTGAGGGGTCACTGCTCTTGTCTTCCCCTTCAGCCACCCTCCAGGCGGGCTTGTGACTACCAAAATTGGCTGAATTCTGAGCACAGATTACCAGAGAGACAATTCTCCTAAGAGACATTCCCACTGCACAAAGAGGTGCCTTCAAGGAGCTGGTAGGCAGTAGAAGAAAGGAAAAAAGGAAGAGCCTCATGCTTGATCTGACACCATGGTCCACGCAGCCCTGGGGGAGCCCCCAGAGCCCTCTCTCCCCCATCAGTCAGCACCATCTGTTACCAGGGTGTAAATGGTGGGTCCTCGTCAGTCCTGGGTGCTGAGGATGGAGCTGACTGGGACAGCTCTCTGCCCCCTAGGACTCACAAGCTCAGGGGAGAGAGTGACCAGGAGACAGCTTGTGACCTTACTATGTGCTCAGTGCAGTGAGCAGGGTGCTTGGGGCCCTGTGCCCAATCTAGGCTACAGAGCCCAGGGTTGCAGGGTTGCTTAAAGCTCCCTGATGGCCCATAATGGCCAGGTCAGTGGGCAGGTCCAGGGCCTGTCAGAATTAGGCAAGCCTGTCTTTATGTTGCTTTCATTCTTTTTAATCATCATGAGATGGAACTTGGCAGATGTCAGTGGACAGAGGCTGGCCAAAGGAGGTTTTCTTATCCCCTGCTAAATTCCTTGCTAGGACACAGTCTGATTTTACCAGCTTAAAGGTGGGATTCTCCACCTTCCTGAGTGGTTCAAGTATCCAGAGCTCAGTGGCTCACCCAGGGTGAATATTATAGTCTCCTGGGGCTGCCATGACAAAGTGCCACAAACTGATGGCTTGAAACAAACCCCATGTATTCTTTCATGCTTCTGGAGGCTGGAAGTCTAAAATCACGGCGTCAGTAAGGCCATGTTCCCTCTGAAGGATGCGTCACTCCAGTCTATGCCTCTGTCATGACATGGATGGCCTTCTTCCCCCTCTGCTTGCCTCTCCTCCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGCCCAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTATTTCCAAATAAGTTCACATTCACAGGTCCCTAGGGTTAAGACTTGGGCAAATCTTTTCTGGGGGGACGCATTTAACCACAACAGGGTGTGACACAGGTTTTGCTCGCTGGCTGTGGCTCAGCCTGTGCAACCACGCTAAGTGTGAAAGGTTTTTACTGCTTTCACCTGGGCAGAAATGGTGGCAACATGGGGCCAGCCTATCCCCACTCTTCTTACCTCTTCAGAGAGGCTGAGGAGCTGGGTTTGTAGAGCTCATCTTTTATAGAGAGACATAAAAAGCCAGGAAGCAGGATTTTAAAATGAATGGGGTTTTAAGTAGAAAATTCGCAGATACTACTTGTTCTGTTCCTTTATAGCACACCTGTCCTGATACTGACTTGGAAAGAGACAAGAAGACTTTGGCTGACCCCACTTGGAAACAATAGGCACTAATCCCAAAATTGTGTATTGATCCCAGAATTCTCAGGAAAAGAAAAAAAAAATCAATACATGCCGCTTCCAGGGTTCTCAGCCTTACTGTGGGGCTGTCCTCAAAAGTCTGCATCACTGGGTCAGGTCTTGACTTCTCTCTCATCTCTCTTCCTGTCTTTCAACCCTCTCTCCTCCCTGCAACCCTCAGGGTACAGCCTGTTCCTCGTGGCAGCCCACGAGTTTGGCCACGCCATGGGGCTGGAGCACTCCCAAGACCCTGGGGCCCTGATGGCACCCATTTACACCTACACCAAGAACTTCCGTCTGTCCCAGGATGACATCAAGGGCATTCAGGAGCTCTATGGTAAACCTCCGGGCGGGGGTTGGGGGTGGAGGGTGAGGAGGGGGGAGGTCATGTAGCCTGGGATGGAGGCCCAGGGGGTGGGACCAGCAAGATCTCATCCAGCCAGGAGTGCTGGAGACGAGGGCAGGAAATGGGAGTGTTGACCTGGTCTTGGGAAGGCAGAGCAGCTCTCCAAGGGGATACTTGGATAACTCTTCCCTATCCGAACAATGCTAATATCCATGTCACTCTTAGCGCTCCATTTCTGGGTTTCTCCCATTTTCTAGGTGAGTAAGGTCACCTGGTGCAAGGTTACACAGGTTTGAGCAACCCAGTGGAGTTTAGAATCCAGGAGAATAGCCAAGTACAGGACAGAATTTTCCATCATGTGGAATGACCTTAACAATACGGGGGTGGAAGTTTCTAGTTTTCATAATAAGCTTTGATTTTTAGTATGTAGTAGAAACAGAACAACCAGTGCCTTAAGCCAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGTTGGTTCTTACAGTGAGGCTAGAGTTTAAAAAGTCAGTTCATTTTTAAAAAATATTTAATGGTCCAGGTGATATCTGAGCCAGGCCAAAATAGTGAAAGTGGTGCTTGAGTGATGAAGTTTGGGGACTGCTAGACTCAGGAAAAAGCCCAAGGTCTGCCGTGAGGGGTGCTGGGTTCAAATGTGGCCTCTGCCCTTCACTAGCTGCAAGATATTGTGTAAGTCTTTATACCTCTTTGGACTCAGTTTCCTCATCTCTAAAATAATTGCTTATCATGAAAAGTGCCATACTGTCAGTTCTGGACACACCAGCGGCCCCCTGACCGCCCTGACTCTTGTGGGCATAAGAATCTGAGCTTTGGGTTTGAATCCTTGGGCAAGTCACTCAACTTTTCTGGGCCTCAGTTTCCTCACCTGTGAAATGGTGCAATCATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTACAAAGGGCCCCAGGACTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCTTAGATGGTTGGGTGGGCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAGGGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCTCAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTGTCCTCTGCTCTTATACCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCGCCAAATGCTTCCCAGAATGACCTGAATTAGGCAGTTTCTGCTGTGTATCAAACAACCTCCAGGTTTCAGTGGATTTGCACCCAAGCATTTTGTTTGCTCTCTCATAGTCTGTGGGTCTACTAGTTATCTTGACTTTCAGCTACAGTTTGGGTTCAGGTGTGCTCTGCCTGTTGTTCTCATGGGATTAGCAGCTACTCATGGCAGATGACAGGGTGCAAGAGGCCAAACTGAACTACACAAGCTCATTTAAAGCCTCCACTCACATCTTGTCTGAGAATATTCCACTGCCTGAAATAAGTCACATGGCCAATCCCAAGACCTACCCTAGAGGGTAGTACTGCAAAGTCACATGGAAATGCATATGAATGCATAATCCTAAAATCAAAATGGAGGGAAGAATTGGGAACCATAATTCAGTCTACCACAGGCCTTCTAGAATGGCGTTGCCCTCAAATGGCCAAATTACTCTGTGTATGGGTGGTGAGTGACTG
AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCCTTCCTGAGGGGTCACTGCTCTTGTCTTCCCCTTCAGCCACCCTCCAGGCGGGCTTGTGACTACCAAAATTGGCTGAATTCTGAGCACAGATTACCAGAGAGACAATTCTCCTAAGAGACATTCCCACTGCACAAAGAGGTGCCTTCAAGGAGCTGGTAGGCAGTAGAAGAAAGGAAAAAAGGAAGAGCCTCATGCTTGATCTGACACCATGGTCCACGCAGCCCTGGGGGAGCCCCCAGAGCCCTCTCTCCCCCATCAGTCAGCACCATCTGTTACCAGGGTGTAAATGGTGGGTCCTCGTCAGTCCTGGGTGCTGAGGATGGAGCTGACTGGGACAGCTCTCTGCCCCCTAGGACTCACAAGCTCAGGGGAGAGAGTGACCAGGAGACAGCTTGTGACCTTACTATGTGCTCAGTGCAGTGAGCAGGGTGCTTGGGGCCCTGTGCCCAATCTAGGCTACAGAGCCCAGGGTTGCAGGGTTGCTTAAAGCTCCCTGATGGCCCATAATGGCCAGGTCAGTGGGCAGGTCCAGGGCCTGTCAGAATTAGGCAAGCCTGTCTTTATGTTGCTTTCATTCTTTTTAATCATCATGAGATGGAACTTGGCAGATGTCAGTGGACAGAGGCTGGCCAAAGGAGGTTTTCTTATCCCCTGCTAAATTCCTTGCTAGGACACAGTCTGATTTTACCAGCTTAAAGGTGGGATTCTCCACCTTCCTGAGTGGTTCAAGTATCCAGAGCTCAGTGGCTCACCCAGGGTGAATATTATAGTCTCCTGGGGCTGCCATGACAAAGTGCCACAAACTGATGGCTTGAAACAAACCCCATGTATTCTTTCATGCTTCTGGAGGCTGGAAGTCTAAAATCACGGCGTCAGTAAGGCCATGTTCCCTCTGAAGGATGCGTCACTCCAGTCTATGCCTCTGTCATGACATGGATGGCCTTCTTCCCCCTCTGCTTGCCTCTCCTCCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGCCCAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTATTTCCAAATAAGTTCACATTCACAGGTCCCTAGGGTTAAGACTTGGGCAAATCTTTTCTGGGGGGACGCATTTAACCACAACAGGGTGTGACACAGGTTTTGCTCGCTGGCTGTGGCTCAGCCTGTGCAACCACGCTAAGTGTGAAAGGTTTTTACTGCTTTCACCTGGGCAGAAATGGTGGCAACATGGGGCCAGCCTATCCCCACTCTTCTTACCTCTTCAGAGAGGCTGAGGAGCTGGGTTTGTAGAGCTCATCTTTTATAGAGAGACATAAAAAGCCAGGAAGCAGGATTTTAAAATGAATGGGGTTTTAAGTAGAAAATTCGCAGATACTACTTGTTCTGTTCCTTTATAGCACACCTGTCCTGATACTGACTTGGAAAGAGACAAGAAGACTTTGGCTGACCCCACTTGGAAACAATAGGCACTAATCCCAAAATTGTGTATTGATCCCAGAATTCTCAGGAAAAGAAAAAAAAAATCAATACATGCCGCTTCCAGGGTTCTCAGCCTTACTGTGGGGCTGTCCTCAAAAGTCTGCATCACTGGGTCAGGTCTTGACTTCTCTCTCATCTCTCTTCCTGTCTTTCAACCCTCTCTCCTCCCTGCAACCCTCAGGGTACAGCCTGTTCCTCGTGGCAGCCCACAAGTTTGGCCACGCCATGGGGCTGGAGCACTCCCAAGACCCTGGGGCCCTGATGGCACCCATTTACACCTACACCAAGAACTTCCGTCTGTCCCAGGATGACATCAAGGGCATTCAGGAGCTCTATGGTAAACCTCCGGGCGGGGGTTGGGGGTGGAGGGTGAGGAGGGGGGAGGTCATGTAGCCTGGGATGGAGGCCCAGGGGGTGGGACCAGCAAGATCTCATCCAGCCAGGAGTGCTGGAGACGAGGGCAGGAAATGGGAGTGTTGACCTGGTCTTGGGAAGGCAGAGCAGCTCTCCAAGGGGATACTTGGATAACTCTTCCCTATCCGAACAATGCTAATATCCATGTCACTCTTAGCGCTCCATTTCTGGGTTTCTCCCATTTTCTAGGTGAGTAAGGTCACCTGGTGCAAGGTTACACAGGTTTGAGCAACCCAGTGGAGTTTAGAATCCAGGAGAATAGCCAAGTACAGGACAGAATTTTCCATCATGTGGAATGACCTTAACAATACGGGGGTGGAAGTTTCTAGTTTTCATAATAAGCTTTGATTTTTAGTATGTAGTAGAAACAGAACAACCAGTGCCTTAAGCCAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGTTGGTTCTTACAGTGAGGCTAGAGTTTAAAAAGTCAGTTCATTTTTAAAAAATATTTAATGGTCCAGGTGATATCTGAGCCAGGCCAAAATAGTGAAAGTGGTGCTTGAGTGATGAAGTTTGGGGACTGCTAGACTCAGGAAAAAGCCCAAGGTCTGCCGTGAGGGGTGCTGGGTTCAAATGTGGCCTCTGCCCTTCACTAGCTGCAAGATATTGTGTAAGTCTTTATACCTCTTTGGACTCAGTTTCCTCATCTCTAAAATAATTGCTTATCATGAAAAGTGCCATACTGTCAGTTCTGGACACACCAGCGGCCCCCTGACCGCCCTGACTCTTGTGGGCATAAGAATCTGAGCTTTGGGTTTGAATCCTTGGGCAAGTCACTCAACTTTTCTGGGCCTCAGTTTCCTCACCTGTGAAATGGTGCAATCATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTACAAAGGGCCCCAGGACTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCTTAGATGGTTGGGTGGGCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAGGGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCTCAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTGTCCTCTGCTCTTATACCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCGCCAAATGCTTCCCAGAATGACCTGAATTAGGCAGTTTCTGCTGTGTATCAAACAACCTCCAGGTTTCAGTGGATTTGCACCCAAGCATTTTGTTTGCTCTCTCATAGTCTGTGGGTCTACTAGTTATCTTGACTTTCAGCTACAGTTTGGGTTCAGGTGTGCTCTGCCTGTTGTTCTCATGGGATTAGCAGCTACTCATGGCAGATGACAGGGTGCAAGAGGCCAAACTGAACTACACAAGCTCATTTAAAGCCTCCACTCACATCTTGTCTGAGAATATTCCACTGCCTGAAATAAGTCACATGGCCAATCCCAAGACCTACCCTAGAGGGTAGTACTGCAAAGTCACATGGAAATGCATATGAATGCATAATCCTAAAATCAAAATGGAGGGAAGAATTGGGAACCATAATTCAGTCTACCACAGGCCTTCTAGAATGGCGTTGCCCTCAAATGGCCAAATTACTCTGTGTATGGGTGGTGAGTGACTG
Task1_train_22637
Here is a mutation in SLC6A2 (solute carrier family 6 member 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Neurocirculatory asthenia
TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGATCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCAGTGAGTGACCCTGCTTAGGATACCTATCCCCCATCCCACTGGGCCTGACCCCCTTCCCCAACACACAGTGCTGGGCCTGAAGTTCCCACTATTCAAACACCAGGTTAACAGTTGTTTCCAGAAGGCCCTATTTAAATGCAGACAAAAAAAGTGAGTCCTCACTCAAAAAGATAAGACTTAGGCCATAGCCAAGAACCATAGGAACCCCTTTGACATCTTGGAAATCCAAAAGAAGAGGCTTCAGATAAGCCAGCCCCACACTGTCCTCTTGCAGGTGGGGAAATGATTCAGAGGCAACACAGATAAAATCTTGTGCTCTAAACAAGCATTTTCTCATTATATTTTATTATCAATAATCAATAGGCCAGGCATGGTGGCTCACTCCTATAATCCCAGGGCTGTGGAAGGCTGAGGTGGAAGGATTGCTTGAGGCCAGGATGTCAAGACCAGACTGGGCAACATAGGGAGACCCCCGTCTCTATAAAAAATTTAAAAAATTAGCTGAGCATGGTGTTGTATGCCTGTAGCCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACATGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATACCACTGCACTTCAACCTGGGTAGAGTGAGACCTGGTTTCTAAAAAACACCTCAAAACCCAAACGAACAAACAAAAACATTTTGAACCCAGTAGTTTCTTACATCCTTTTATTTTATCCAAATGTAAGATTGGATTTACTGACATCTTTTTAAATCTATGTCTACCCTTAGTACCTCATGCCTGGACATTTGCAAAAAATCTTATGGAAGGGCTGGCACTTGGTTTTCCTCCCACTGCCTTTTGCTTTCAGTCAGCAGATCTGCCAGGAGCAGGGAGTTGAGAAGGATTTTGAGGCTGCTTCTGGGCTTATAATGAAGAATACTGATTTTGATTAACAGTGTCTGCCAAGAGGAGGGGAGAGGAGAGGAGAGTGGTAGCTTGCATTCTTCTTGTCTGCCCTCACATTGTCCTCATAAGGAAGCAATCTGCCCATAGCAGTGGGATATGAGACCCTTTCAGACTCTAAGAGTCTGGAGTTTGAAGTGACCACTTTGCTTGATCATTAGAAAGGCAGCCAAAAATCCTTATCAAAAACTGCTGCCTGAAGTTCCCATCACTAGAAGCTCTTCTGCAGGAGTTGTTTCCAGAGACACTTATTGACATGTAAACGTATGACATGGGTTTTGGTGTTTTACTGCTTTCACTCCACTATCAGCTTATCTGTACCCACTCAGGCTGAGTGAGTGTCAGGAGACAGGTAGCTGTTGCGTAGGGGAGACAGGTGTTGACTTAACCCTCACCCTCTCCCACGTAGTTTCTGAGTTCTGAGTTTGCCTGAGAACAGGACAGAAATGTGACGAGAGGATGGGGAAGGCAGGACGTGCTGATTTCTCGAGAGAGGCAAGGCAGCCTACATGAGTCCTGGGCTGCAGGAGGCTCTAGGAACCCTGGGGCCTGAGACTGAGGTCCAGGGAGACCCTAATTCCTGCACCCCACCCCTCCTGGTTCCCTCCAGATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGACACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCGCCCTGTTCTGCATAACCAAGGTGAGTAGGGGCTGGGCTCTGGGTCACCTGGGGGCCTCTGAGGCCGCATTTCAATAAAGTCAAACATTCCTAGCCTTAGAACTGGGGCTGAGCTCAGGGAGAACAATGCAGGATCCAGCATCCTCAATTCAGCGGCCTGACCCACTAGGGTTAGGCCCAGTAGTCTTCTTCCATCTCTGATGCTGAGGATTCCATTCAGCCCTGTTAATTGCTTATTGACTTGAGGGGCAGCAAAAGTCCCTTTGGAACCCATCTAACTCTTTATTGGCTGAAACTGAGGTGACTGTAACGTCAATACAACAGCACCACAGCCCTATGCCCTGGGTTTTCAAATAGAGCTCCGAGCAAGTGGGACAGGGGGCAGGTAAGAGTTGACAGACACAACAATCAGTTCCCACGTTTGACCAAAGAGGGCCTCTTGGCTTCTTCTCTCCCTGTGCCAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCCATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGTATGTGAGTGTGTGGAAAAGCCTCAGCTCCCAGTCCTCCTAGAATCCTGCACCTGGAGGTGTGCAGGGAGGCCTTCCATTTCCAGGACAGCCACCTAAAATTCCAGAGTCCAGCAAGTCACTTATTGGGAACAAATCTCAATCCTCGGCTCATCTTTGGATGAACCTGCCCTTAACAGGAGGCTGCAAAGGCCCCTGGGCATCAACTCCTAAAAGAGGAACCCTTAGGAAAATGCTGACCCCCAAGTCATATAATTCATCCTACCAGGGGGTTGTCAGATTTAGCAAACACAACACGGGTTGCCTAGTTAAACTTGAATTTCAGATAAATAACAAATAATTATTTAGTATAAGTATAGCTCAAATATTGCATCGGACATACTTACCCTAATTTTTTTCATTATTTATGTGAAATTCAAACTTAACTGGGTATCTTGTATTTTTTCTGGCAAACTTATTCTGGAACAGAACTGAGAGAATATTTTACAAACCCTTAAATGTGTTAATTGTTTGTTTTTCCCCACCAAGTGTCACACCAACATGTTAGTCCTGTTCTCACTCTGCTGCCACTCAGAAAGAGATTCAATGGAAGAGTCTGGGCTCTCCTATCAGATTGAAGTCAGGGAATGTGCTGTATGCATAGTTGTTGTTATTTTCAGAGCAAGAGTAACCAAGAGGAAAGAGCTGGGCTTTGGAGTCAGGCCAACTGGCTCTGGAATTTGGGGCAAATCCCCTCACCTCTTTGAGCCCAGGTTTCCCTCTGACAGGTGAATTGGGGTGACACATGAAAGGGGATACTGTCCTAGAGTTTGTCCTCTCCCTCATTCTGCATTACAAAGGGCCCATCCCCGAGTCTCCCTAGTTCCAGGGTATCAGCATCTTGCCTCACTGCCCTGCTCTCCACCTGGGGCCAGAACCTCATGGGAGGACCTGGCCCTGGCTATCATGGGGGCCATGGTAACAGGCCTGCCCTGTGTGTGCACAGGAGTGGACAGGTTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGCTGGAAGTTCGTCAGTCCTGCCTTCCTCCTGGTGTGTAGTGTCTGCAGGGAAGTCCTGCATGTGGGGAGGGGGCTGTGTCCAGGATGGAGCTGGGTGAGGATATTTGCTTCTTAGGGGAGGAGGCTCTGGGATCCAGAGGCCCTGGTCATGCAGAGGGGTCACTTGGGATGCTTGGCCCTGTGGATAACGTGGTAGACATCCACCTTACTAGGGGGTTCTCCAGCTGGGGCCAGGTCCCCGGGGGCTGTTATGCCTTCTCCAAAGTCACCTTCTGTTCTTCCTCTTTTCTTGCTCCCTGTCATATCTGCCTCCTTTTGATTATCACTTGCTTCTTGAATTCTTTCTTATTTCTCCATCTCTTTCTCTTTTCCACTCCTTCCTTATTTCCTCCCTTTGCTGTGATGCTCACTTCTCTTCATTTCTCTCCC
TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGATCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCAGTGAGTGACCCTGCTTAGGATACCTATCCCCCATCCCACTGGGCCTGACCCCCTTCCCCAACACACAGTGCTGGGCCTGAAGTTCCCACTATTCAAACACCAGGTTAACAGTTGTTTCCAGAAGGCCCTATTTAAATGCAGACAAAAAAAGTGAGTCCTCACTCAAAAAGATAAGACTTAGGCCATAGCCAAGAACCATAGGAACCCCTTTGACATCTTGGAAATCCAAAAGAAGAGGCTTCAGATAAGCCAGCCCCACACTGTCCTCTTGCAGGTGGGGAAATGATTCAGAGGCAACACAGATAAAATCTTGTGCTCTAAACAAGCATTTTCTCATTATATTTTATTATCAATAATCAATAGGCCAGGCATGGTGGCTCACTCCTATAATCCCAGGGCTGTGGAAGGCTGAGGTGGAAGGATTGCTTGAGGCCAGGATGTCAAGACCAGACTGGGCAACATAGGGAGACCCCCGTCTCTATAAAAAATTTAAAAAATTAGCTGAGCATGGTGTTGTATGCCTGTAGCCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACATGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATACCACTGCACTTCAACCTGGGTAGAGTGAGACCTGGTTTCTAAAAAACACCTCAAAACCCAAACGAACAAACAAAAACATTTTGAACCCAGTAGTTTCTTACATCCTTTTATTTTATCCAAATGTAAGATTGGATTTACTGACATCTTTTTAAATCTATGTCTACCCTTAGTACCTCATGCCTGGACATTTGCAAAAAATCTTATGGAAGGGCTGGCACTTGGTTTTCCTCCCACTGCCTTTTGCTTTCAGTCAGCAGATCTGCCAGGAGCAGGGAGTTGAGAAGGATTTTGAGGCTGCTTCTGGGCTTATAATGAAGAATACTGATTTTGATTAACAGTGTCTGCCAAGAGGAGGGGAGAGGAGAGGAGAGTGGTAGCTTGCATTCTTCTTGTCTGCCCTCACATTGTCCTCATAAGGAAGCAATCTGCCCATAGCAGTGGGATATGAGACCCTTTCAGACTCTAAGAGTCTGGAGTTTGAAGTGACCACTTTGCTTGATCATTAGAAAGGCAGCCAAAAATCCTTATCAAAAACTGCTGCCTGAAGTTCCCATCACTAGAAGCTCTTCTGCAGGAGTTGTTTCCAGAGACACTTATTGACATGTAAACGTATGACATGGGTTTTGGTGTTTTACTGCTTTCACTCCACTATCAGCTTATCTGTACCCACTCAGGCTGAGTGAGTGTCAGGAGACAGGTAGCTGTTGCGTAGGGGAGACAGGTGTTGACTTAACCCTCACCCTCTCCCACGTAGTTTCTGAGTTCTGAGTTTGCCTGAGAACAGGACAGAAATGTGACGAGAGGATGGGGAAGGCAGGACGTGCTGATTTCTCGAGAGAGGCAAGGCAGCCTACATGAGTCCTGGGCTGCAGGAGGCTCTAGGAACCCTGGGGCCTGAGACTGAGGTCCAGGGAGACCCTAATTCCTGCACCCCACCCCTCCTGGTTCCCTCCAGATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGACACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCCCCCTGTTCTGCATAACCAAGGTGAGTAGGGGCTGGGCTCTGGGTCACCTGGGGGCCTCTGAGGCCGCATTTCAATAAAGTCAAACATTCCTAGCCTTAGAACTGGGGCTGAGCTCAGGGAGAACAATGCAGGATCCAGCATCCTCAATTCAGCGGCCTGACCCACTAGGGTTAGGCCCAGTAGTCTTCTTCCATCTCTGATGCTGAGGATTCCATTCAGCCCTGTTAATTGCTTATTGACTTGAGGGGCAGCAAAAGTCCCTTTGGAACCCATCTAACTCTTTATTGGCTGAAACTGAGGTGACTGTAACGTCAATACAACAGCACCACAGCCCTATGCCCTGGGTTTTCAAATAGAGCTCCGAGCAAGTGGGACAGGGGGCAGGTAAGAGTTGACAGACACAACAATCAGTTCCCACGTTTGACCAAAGAGGGCCTCTTGGCTTCTTCTCTCCCTGTGCCAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCCATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGTATGTGAGTGTGTGGAAAAGCCTCAGCTCCCAGTCCTCCTAGAATCCTGCACCTGGAGGTGTGCAGGGAGGCCTTCCATTTCCAGGACAGCCACCTAAAATTCCAGAGTCCAGCAAGTCACTTATTGGGAACAAATCTCAATCCTCGGCTCATCTTTGGATGAACCTGCCCTTAACAGGAGGCTGCAAAGGCCCCTGGGCATCAACTCCTAAAAGAGGAACCCTTAGGAAAATGCTGACCCCCAAGTCATATAATTCATCCTACCAGGGGGTTGTCAGATTTAGCAAACACAACACGGGTTGCCTAGTTAAACTTGAATTTCAGATAAATAACAAATAATTATTTAGTATAAGTATAGCTCAAATATTGCATCGGACATACTTACCCTAATTTTTTTCATTATTTATGTGAAATTCAAACTTAACTGGGTATCTTGTATTTTTTCTGGCAAACTTATTCTGGAACAGAACTGAGAGAATATTTTACAAACCCTTAAATGTGTTAATTGTTTGTTTTTCCCCACCAAGTGTCACACCAACATGTTAGTCCTGTTCTCACTCTGCTGCCACTCAGAAAGAGATTCAATGGAAGAGTCTGGGCTCTCCTATCAGATTGAAGTCAGGGAATGTGCTGTATGCATAGTTGTTGTTATTTTCAGAGCAAGAGTAACCAAGAGGAAAGAGCTGGGCTTTGGAGTCAGGCCAACTGGCTCTGGAATTTGGGGCAAATCCCCTCACCTCTTTGAGCCCAGGTTTCCCTCTGACAGGTGAATTGGGGTGACACATGAAAGGGGATACTGTCCTAGAGTTTGTCCTCTCCCTCATTCTGCATTACAAAGGGCCCATCCCCGAGTCTCCCTAGTTCCAGGGTATCAGCATCTTGCCTCACTGCCCTGCTCTCCACCTGGGGCCAGAACCTCATGGGAGGACCTGGCCCTGGCTATCATGGGGGCCATGGTAACAGGCCTGCCCTGTGTGTGCACAGGAGTGGACAGGTTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGCTGGAAGTTCGTCAGTCCTGCCTTCCTCCTGGTGTGTAGTGTCTGCAGGGAAGTCCTGCATGTGGGGAGGGGGCTGTGTCCAGGATGGAGCTGGGTGAGGATATTTGCTTCTTAGGGGAGGAGGCTCTGGGATCCAGAGGCCCTGGTCATGCAGAGGGGTCACTTGGGATGCTTGGCCCTGTGGATAACGTGGTAGACATCCACCTTACTAGGGGGTTCTCCAGCTGGGGCCAGGTCCCCGGGGGCTGTTATGCCTTCTCCAAAGTCACCTTCTGTTCTTCCTCTTTTCTTGCTCCCTGTCATATCTGCCTCCTTTTGATTATCACTTGCTTCTTGAATTCTTTCTTATTTCTCCATCTCTTTCTCTTTTCCACTCCTTCCTTATTTCCTCCCTTTGCTGTGATGCTCACTTCTCTTCATTTCTCTCCC
Task1_train_22638
With a mutation on Chromosome 16 in gene CES1 (carboxylesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; DRUG METABOLISM, ALTERED, CES1-RELATED
CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATTTCAGATCCCAATCAGGGAAGGCTTTTTGGAGGCAGTGACATTTGAGGTTTTGGAGGCAAAGACCTTCATAAAACAAGCACAATGAGCACATGAACCTTGTAAATATCCAAAGAAAGGAATTCCAGGCAGAAGAAAAAGCAAGTGCAAAGGGCCTGGGGCCCAGTGAAAGAAAGTGTGAGTCAGGAGGTGCAGCTAGAGAGGGCCCTGGGGCCTGGCAAGAACTTCGGCTGTCATGGTAAGGAGCATGGGAAGCCCCTGCAGGGTTTTGTGCAGAGGCATCGCATGATTCAATGCATGTGTTAAGTGATCACTCTGGCTACTGTGCAACTCAGCTTTATATAAAAGTGGCAGGGATCTGAAAGTGTTAAAGATCATAATCAAGGTGACAGACAGAGAGCTTTGGCTGGGCTAGGAGCCAGGGAAGAGGTGCAAAGTAGGGGACTCTGAGTGGATTCTGAAGGCGCAGCCAAGAGGGTTGTGAGAAAAGAGACAGTCCGGGCTGTCCACAAGGCCTTCTCCTGAGCCCAAGGGAGGATGTGGCAGCAGAAGCTGAGTGGAGGCGTGGTGGGAGGAGAAGGGGGTCTCTGTTGGGGAGGGGCAGTGGGAGTCAAGGATTCAACTTGTCCCTGGGAAGAGTGGGGCACCCTTTAGACAGCCAGGGGTGGGGAGGAGGGAGTGAGTGATGCCTGTGGGCTTCAAAGGTGAGGTGGGCTGGAAACAGGGGCTCTGGCTGCTCCCTGGGATCACTGGGAATTAGTAAGGAGGGAGAGGGAGACAAGAGAGGCCTGTGGACAGGGAGGAGGGAGGACCAGGAAAGGGGCTGGGAAGGAAGCATGTCACAGAGGCTGAGTGGCCATCTGCTGCTGCTGGGAAGTCCTGAGAGGTTGGGTGGAGAGCAGGGGGAGGTCATTGATGACCGCAATGAGACCAACTGAGTGGCGTGTTCAGGAAGAAACCTGACTGGCATGGATGGAGGAGAACCTTAGAAAAGGTTCATAGCAGTTGCGCCTTGAAGGAGATCTGACTCCTGTCCCCATGGAGACCTGATGGGAAGACTCCATCCTTGCTTCCCACACTTGCCAAATTTCAAGCAGAAAATGAGCTGAGTGGGTCCCAACACTCCCACAGGAAGGGGTCAGATGCTCCCACACCCCACCATCTGCAGCCCCCATTCCTTCACCCACAACATGCCCTGAGCTCCCTCTGTGACTCTGCCCCTTCCCTCCTTTCCATGAGAAGTCAGATGTGTCAACCTTCACCTGCTGGGCTGACTGCTAAGTGTCATGACAGAGAAAAGCAATGTGCTGGAGAAACATAGGTGAAGAGGAGATGAGTCTTTCAGTGGAGGTAACTGGGGGCTGGGTCTTGCAGGATGAAGAGGTGTTCTTCGGATAGAATAAGCATTCCAGGCAGAGGGAACAGCACATGCAAAAGCTCAGAGGCAAGTGGATGAGTGGCTGGGTAGTGAGAGGGTAGGTAGTGTCCAATTACGAAGGGGCTTGGATGCCTTACTGTGGAACCTAGCTAAGCTCCCCTGAGGGCTGGCATGACAAGAGCTGGGTCCTAGCATCCTCGTTCTGGGGGCCAAAGTGCAGTGAGGAGAGTCCGATTTCTTACCTGAAGAATCCCCAGATGCCCAGGCGATATTGAATGGTCACCACCACCACGTTTTCATGGGCAGCAAGGGCCAGCCCATCATAGGTTGATGCCGCACCCACCATCAGCCCCCCTCCGTGGATCCACACCATCACCTGGGCAGAGAGGAAGCAACATACCAGTTACAGGACACAGAGCCAGGGAGCACTCAGAAGATGTCTTGTTTGGTGACCTACCTGTTGGTTACAACTGAAGGAGGATGCTATCCAAAGTTCACCAGCTCCCAGCAACTTTGCAAAAGGCAATCTCTCTCCTGCATAATTCTCCCAACTGGGACCCAAGCCACCACCCTACTGCACATACCCTGGCTGTCCCTTCCTTTCTACCCAGCCTCCAGTGCCTCCTCCCCGAAAGGCTCTTGATGCTGAGAACATCATCATGGGCATAGCAAAGGCTAAGGATGTCCTCTTCGGGAGGACACTCCCATCACCCTCAAGCCTAGACTATTCATGCACTCAGCGTACCCATGGGGCAGCCCTTGTATCTCAGCTTCATCTCAGTTAACTATCTCTTGGTGAAGTAAACTTCTCTGTGCATGAATGATTGTCTCGAGAAGCACACGTGCCTGTGATGGTGTCTCTTCCTCAAATGCCTCCTTATGCCTCTGCATCCCCAAATCCTATCCACCCTGCAGAACCCAGCCTAAAACCCACCCACTTCAGGATGCCTTCAGTCAATGGACTAACACTGTCGAGAACTTAGCATGTGCCAGGGACTCTGCTAATACTGGAGGATGAGAGTGGATACAATTCCTCATGCATGATTCTTGCATTTTAAAAGTCCACATAGTGGGGAAGAAGTGAGAGTGGCTAAAATAATGATATTGTAATAATATTATTCATGAAATATAAAAGAACTCGTAACATAAACTATGTCCCAAGTGCTGTTCTAAGCACAGTAAAATAAACTATACATTGGGTAGGTACTAATAATGTCCCATTATCCAGGTGGGAAAATGGAGGCACTTAACCTGCCCAAGGTCCTACAACTCAAAAGTGGTAGCAGCAGGACTTTAACCCAGGCAGTCTGCCTCCAGAGTCCACATGTTGAGCTGCCCAGCACACTGCAGGCGCCGGCCACAGTGCAGTGAGTCCACTGTTAGGGCAGGGGTATGAGCCTGCCTCTGCCTTTTTAGCCAGGGACTGAGATCACGCTTAGTGGTCACCCTTGACTGATCATATGTGATGATTCCCATTTTGAGGAAACAGAGGCTTAGAGAAGTTAAGAAACTCCCAAGTCTCTCAGCTAGTCAAAAGCAGAACCAGGATTTAAACCCAGACCGTGTAGTTCTAGAGCCTGTGGCCATTCCTGGAGGTTCTCCTGACTCCAGGTTCCCAGAGCCCTTGTTTCTCCCACAACTCTAATCCCTGCCTGCCTCCTGGGGAGGGATTGAGTGTGCATTCATCTTTGTGTGAAGACTGAGCCTGAGGGCTGGCCTGCAATAAAGTGCTGAAGGGAGGATATGTCTCTACAGCCCAGAAGGCAAGATCCTTGAAGGCAGGGGCTGTGTGGAGTGGATTCATGTTCCTCCTTTCCCTGAAGCCCCAGGTCTAACTGTGTATATGGGGCACTGAGTACACAATAGAAGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGTAAACCTTTCTCTCACTTCCTGTGTCTCACAAAGCACATGTAGGACCAACTTCTAGTTCCACGTTCGCAGACCTGCTCCCCCACTCCTAGGCACCATGCCACGGTGCCCCTGGGAGACTGGCTAGACACAACACCCCTTGTTTTTTCACCCTGGGTGCCTCCTTTGCCAGCAGACCCTCCCCACCCTCCAACCTGCAGCTGGCGGGCTGCCCCATGTCCTGCCCTTCATTTATTTGGGAAATTCTGACTCACTGGGTCATCAGCCTTTGCCAAGACAATTAGGGAGGGAAATTAGGTACAAAAAGAAATCCCAGCTATTTGGCCAAAGGCAAAAGGAAGAGCTTCTGGGATTGTCCAGGCTCCGCCCCCAACATCCGTACCTGGACAGTGAAAGTTACCCCAGATGAATGTTGCTGTGCTGGAGAAAGGCCACATACAAGCTCAATGCCCTACTCCATGTCAAAAGCACTGATGTGAAGATCAGAAGACTTGAG
CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATTTCAGATCCCAATCAGGGAAGGCTTTTTGGAGGCAGTGACATTTGAGGTTTTGGAGGCAAAGACCTTCATAAAACAAGCACAATGAGCACATGAACCTTGTAAATATCCAAAGAAAGGAATTCCAGGCAGAAGAAAAAGCAAGTGCAAAGGGCCTGGGGCCCAGTGAAAGAAAGTGTGAGTCAGGAGGTGCAGCTAGAGAGGGCCCTGGGGCCTGGCAAGAACTTCGGCTGTCATGGTAAGGAGCATGGGAAGCCCCTGCAGGGTTTTGTGCAGAGGCATCGCATGATTCAATGCATGTGTTAAGTGATCACTCTGGCTACTGTGCAACTCAGCTTTATATAAAAGTGGCAGGGATCTGAAAGTGTTAAAGATCATAATCAAGGTGACAGACAGAGAGCTTTGGCTGGGCTAGGAGCCAGGGAAGAGGTGCAAAGTAGGGGACTCTGAGTGGATTCTGAAGGCGCAGCCAAGAGGGTTGTGAGAAAAGAGACAGTCCGGGCTGTCCACAAGGCCTTCTCCTGAGCCCAAGGGAGGATGTGGCAGCAGAAGCTGAGTGGAGGCGTGGTGGGAGGAGAAGGGGGTCTCTGTTGGGGAGGGGCAGTGGGAGTCAAGGATTCAACTTGTCCCTGGGAAGAGTGGGGCACCCTTTAGACAGCCAGGGGTGGGGAGGAGGGAGTGAGTGATGCCTGTGGGCTTCAAAGGTGAGGTGGGCTGGAAACAGGGGCTCTGGCTGCTCCCTGGGATCACTGGGAATTAGTAAGGAGGGAGAGGGAGACAAGAGAGGCCTGTGGACAGGGAGGAGGGAGGACCAGGAAAGGGGCTGGGAAGGAAGCATGTCACAGAGGCTGAGTGGCCATCTGCTGCTGCTGGGAAGTCCTGAGAGGTTGGGTGGAGAGCAGGGGGAGGTCATTGATGACCGCAATGAGACCAACTGAGTGGCGTGTTCAGGAAGAAACCTGACTGGCATGGATGGAGGAGAACCTTAGAAAAGGTTCATAGCAGTTGCGCCTTGAAGGAGATCTGACTCCTGTCCCCATGGAGACCTGATGGGAAGACTCCATCCTTGCTTCCCACACTTGCCAAATTTCAAGCAGAAAATGAGCTGAGTGGGTCCCAACACTCCCACAGGAAGGGGTCAGATGCTCCCACACCCCACCATCTGCAGCCCCCATTCCTTCACCCACAACATGCCCTGAGCTCCCTCTGTGACTCTGCCCCTTCCCTCCTTTCCATGAGAAGTCAGATGTGTCAACCTTCACCTGCTGGGCTGACTGCTAAGTGTCATGACAGAGAAAAGCAATGTGCTGGAGAAACATAGGTGAAGAGGAGATGAGTCTTTCAGTGGAGGTAACTGGGGGCTGGGTCTTGCAGGATGAAGAGGTGTTCTTCGGATAGAATAAGCATTCCAGGCAGAGGGAACAGCACATGCAAAAGCTCAGAGGCAAGTGGATGAGTGGCTGGGTAGTGAGAGGGTAGGTAGTGTCCAATTACGAAGGGGCTTGGATGCCTTACTGTGGAACCTAGCTAAGCTCCCCTGAGGGCTGGCATGACAAGAGCTGGGTCCTAGCATCCTCGTTCTGGGGGCCAAAGTGCAGTGAGGAGAGTCCGATTTCTTACCTGAAGAATCCCCAGATGCCCAGGCGATATTGAATGGTCACCACCACCACGTTTTCATGGGCAGCAAGGGCCAGCCCATCATAGGTTGATGCCGCACCCACCATCAGCCCCTCTCCGTGGATCCACACCATCACCTGGGCAGAGAGGAAGCAACATACCAGTTACAGGACACAGAGCCAGGGAGCACTCAGAAGATGTCTTGTTTGGTGACCTACCTGTTGGTTACAACTGAAGGAGGATGCTATCCAAAGTTCACCAGCTCCCAGCAACTTTGCAAAAGGCAATCTCTCTCCTGCATAATTCTCCCAACTGGGACCCAAGCCACCACCCTACTGCACATACCCTGGCTGTCCCTTCCTTTCTACCCAGCCTCCAGTGCCTCCTCCCCGAAAGGCTCTTGATGCTGAGAACATCATCATGGGCATAGCAAAGGCTAAGGATGTCCTCTTCGGGAGGACACTCCCATCACCCTCAAGCCTAGACTATTCATGCACTCAGCGTACCCATGGGGCAGCCCTTGTATCTCAGCTTCATCTCAGTTAACTATCTCTTGGTGAAGTAAACTTCTCTGTGCATGAATGATTGTCTCGAGAAGCACACGTGCCTGTGATGGTGTCTCTTCCTCAAATGCCTCCTTATGCCTCTGCATCCCCAAATCCTATCCACCCTGCAGAACCCAGCCTAAAACCCACCCACTTCAGGATGCCTTCAGTCAATGGACTAACACTGTCGAGAACTTAGCATGTGCCAGGGACTCTGCTAATACTGGAGGATGAGAGTGGATACAATTCCTCATGCATGATTCTTGCATTTTAAAAGTCCACATAGTGGGGAAGAAGTGAGAGTGGCTAAAATAATGATATTGTAATAATATTATTCATGAAATATAAAAGAACTCGTAACATAAACTATGTCCCAAGTGCTGTTCTAAGCACAGTAAAATAAACTATACATTGGGTAGGTACTAATAATGTCCCATTATCCAGGTGGGAAAATGGAGGCACTTAACCTGCCCAAGGTCCTACAACTCAAAAGTGGTAGCAGCAGGACTTTAACCCAGGCAGTCTGCCTCCAGAGTCCACATGTTGAGCTGCCCAGCACACTGCAGGCGCCGGCCACAGTGCAGTGAGTCCACTGTTAGGGCAGGGGTATGAGCCTGCCTCTGCCTTTTTAGCCAGGGACTGAGATCACGCTTAGTGGTCACCCTTGACTGATCATATGTGATGATTCCCATTTTGAGGAAACAGAGGCTTAGAGAAGTTAAGAAACTCCCAAGTCTCTCAGCTAGTCAAAAGCAGAACCAGGATTTAAACCCAGACCGTGTAGTTCTAGAGCCTGTGGCCATTCCTGGAGGTTCTCCTGACTCCAGGTTCCCAGAGCCCTTGTTTCTCCCACAACTCTAATCCCTGCCTGCCTCCTGGGGAGGGATTGAGTGTGCATTCATCTTTGTGTGAAGACTGAGCCTGAGGGCTGGCCTGCAATAAAGTGCTGAAGGGAGGATATGTCTCTACAGCCCAGAAGGCAAGATCCTTGAAGGCAGGGGCTGTGTGGAGTGGATTCATGTTCCTCCTTTCCCTGAAGCCCCAGGTCTAACTGTGTATATGGGGCACTGAGTACACAATAGAAGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGTAAACCTTTCTCTCACTTCCTGTGTCTCACAAAGCACATGTAGGACCAACTTCTAGTTCCACGTTCGCAGACCTGCTCCCCCACTCCTAGGCACCATGCCACGGTGCCCCTGGGAGACTGGCTAGACACAACACCCCTTGTTTTTTCACCCTGGGTGCCTCCTTTGCCAGCAGACCCTCCCCACCCTCCAACCTGCAGCTGGCGGGCTGCCCCATGTCCTGCCCTTCATTTATTTGGGAAATTCTGACTCACTGGGTCATCAGCCTTTGCCAAGACAATTAGGGAGGGAAATTAGGTACAAAAAGAAATCCCAGCTATTTGGCCAAAGGCAAAAGGAAGAGCTTCTGGGATTGTCCAGGCTCCGCCCCCAACATCCGTACCTGGACAGTGAAAGTTACCCCAGATGAATGTTGCTGTGCTGGAGAAAGGCCACATACAAGCTCAATGCCCTACTCCATGTCAAAAGCACTGATGTGAAGATCAGAAGACTTGAG
Task1_train_22639
This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Developmental and epileptic encephalopathy, 17
GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTG
GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGATCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTG
Task1_train_22640
Here is a mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAA
GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCTGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAA
Task1_train_22641
The following genetic variant occurs in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Developmental and epileptic encephalopathy, 17
CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAG
CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGCGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAG
Task1_train_22642
This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTAGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
Task1_train_22643
This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Developmental and epileptic encephalopathy, 17
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTAGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
Task1_train_22644
Gene GNAO1 (G protein subunit alpha o1), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Neurodevelopmental disorder with involuntary movements
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTCGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
Task1_train_22645
Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Developmental and epileptic encephalopathy, 17
TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAACACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
Task1_train_22646
A variant has been detected on Chromosome 16 in GNAO1 (G protein subunit alpha o1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAACACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
Task1_train_22647
A mutation found in GNAO1 (G protein subunit alpha o1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGGGTCGAAAGCATTCGG
CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCCGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGGGTCGAAAGCATTCGG
Task1_train_22648
This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACGGAGGGCAGTCAGGCTCAGGAGAGGAGGCCAGGAGTCCTGTTTAAATTTTTTTTCTGGATTTTTAAAATGCTGATGATGTCCAGTTTAAGAGCGTGGGGTCTGGAGCCAGTCAGAACTGGGCTGGAATCCCAGCCAAGTGCATTTTCTTTTTTTCTTTTTTTTTTTTTTCTCCCCGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTCCTGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGCTGGGATTATAGGCACCTGCCACCAGGCCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAAATCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGCCAAGTTCATTTTCTCGCAGTGTGACTTCAAGCTTACCTCCCTGAGCCTTGGAAGCCACCCTTCTGTTTTCTTTTCTTAGGGGCATTCTCACAAGGATTGTCACTGGGTTCTATCAGTGAACACCCTAGCTGGCGAAGTCATCTGCCCTTTCCAGCCCTGTGGACATCCATGAGCTGGTCAGCATGCCCATCTCTCATGCAGTGGTAACTGCAGGTCCAGCCAGCAAGCTGGCCCCCAGCAGGTCCTGGAGCAGATGCAGCCTGGGACCCCACATCGTTCTGTGGTTCAGACACTTGGGGCTCCTCCCTGTGGGCTGCTTGTGGTTTGCCCCGGCAGCAGGGATGGGTGGCCTGGCAGGCTCCATGGATCACTGAGTCTTCCTTCAGGCCTGGCCCAGCTCCCCACTTCCTGATTTCCCAGATCCTACCCTGGCTTTAGGTTCAAACTTAACCCACAATGAACCCCAAAGCCCTTGCAGGCAGCGTCCTCTGAGTGCTTGGCCTGAGGCCTGGGCAGGTGACTTGCAAAAGCCTGGTCTGTCCCCACAGCAGGAGGTAGCAGGGGTAAAGAGCCCTGATTCCAAAGACCGGGTCCCAGGGAGGCCCAGCCGCTGTATGGCTGTGCAGCCCTGAGCCTCCAAGAGCATCAAATTGGAAGGGGCACACAGACCCCTTGGTAAGTGAGAAGGAAGTGTGGAGAAGGCAGGGAACTGCTCAGGGGCCGCTGAAGCCCCAGACAGTAATAAAATTATGGCCTCTGGAGCCAAGGGTCCGGGTCACAGCCTCAGGCAAGGTACTTACCTTCGATGAGCCCCAGTTTTAGTACATTTAACTCAGGGAAATTACACATGAAACATGGTTACACATGCAAAGAATAGAACCTATCTGTTGGCCATTATTATCTTTTAAATGAAAAAATGACAAAACAGTATTATAATAAACATGGTAGTCTCATATAAAAGCTTGATCTTGTCTGAGTGTCCCGGGAGCTGCATGCGTAGCCCTTTTGGCTGTGAATGAGTGCGTGAGGCCAAGACCCCTAAGACCCACTTCCTCAGTCGCCCCCACTCCCTATGGCCTGGAATGGAGGTGATGTCTTTTCCACAGTGACCTGGAGGGGCCCTGACCGAGACTGGACTCTGAAGATGGGTGGCCTGGCCAGTCCCGAACAGTGTCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGA
CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACGGAGGGCAGTCAGGCTCAGGAGAGGAGGCCAGGAGTCCTGTTTAAATTTTTTTTCTGGATTTTTAAAATGCTGATGATGTCCAGTTTAAGAGCGTGGGGTCTGGAGCCAGTCAGAACTGGGCTGGAATCCCAGCCAAGTGCATTTTCTTTTTTTCTTTTTTTTTTTTTTCTCCCCGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTCCTGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGCTGGGATTATAGGCACCTGCCACCAGGCCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAAATCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGCCAAGTTCATTTTCTCGCAGTGTGACTTCAAGCTTACCTCCCTGAGCCTTGGAAGCCACCCTTCTGTTTTCTTTTCTTAGGGGCATTCTCACAAGGATTGTCACTGGGTTCTATCAGTGAACACCCTAGCTGGCGAAGTCATCTGCCCTTTCCAGCCCTGTGGACATCCATGAGCTGGTCAGCATGCCCATCTCTCATGCAGTGGTAACTGCAGGTCCAGCCAGCAAGCTGGCCCCCAGCAGGTCCTGGAGCAGATGCAGCCTGGGACCCCACATCGTTCTGTGGTTCAGACACTTGGGGCTCCTCCCTGTGGGCTGCTTGTGGTTTGCCCCGGCAGCAGGGATGGGTGGCCTGGCAGGCTCCATGGATCACTGAGTCTTCCTTCAGGCCTGGCCCAGCTCCCCACTTCCTGATTTCCCAGATCCTACCCTGGCTTTAGGTTCAAACTTAACCCACAATGAACCCCAAAGCCCTTGCAGGCAGCGTCCTCTGAGTGCTTGGCCTGAGGCCTGGGCAGGTGACTTGCAAAAGCCTGGTCTGTCCCCACAGCAGGAGGTAGCAGGGGTAAAGAGCCCTGATTCCAAAGACCGGGTCCCAGGGAGGCCCAGCCGCTGTATGGCTGTGCAGCCCTGAGCCTCCAAGAGCATCAAATTGGAAGGGGCACACAGACCCCTTGGTAAGTGAGAAGGAAGTGTGGAGAAGGCAGGGAACTGCTCAGGGGCCGCTGAAGCCCCAGACAGTAATAAAATTATGGCCTCTGGAGCCAAGGGTCCGGGTCACAGCCTCAGGCAAGGTACTTACCTTCGATGAGCCCCAGTTTTAGTACATTTAACTCAGGGAAATTACACATGAAACATGGTTACACATGCAAAGAATAGAACCTATCTGTTGGCCATTATTATCTTTTAAATGAAAAAATGACAAAACAGTATTATAATAAACATGGTAGTCTCATATAAAAGCTTGATCTTGTCTGAGTGTCCCGGGAGCTGCATGCGTAGCCCTTTTGGCTGTGAATGAGTGCGTGAGGCCAAGACCCCTAAGACCCACTTCCTCAGTCGCCCCCACTCCCTATGGCCTGGAATGGAGGTGATGTCTTTTCCACAGTGACCTGGAGGGGCCCTGACCGAGACTGGACTCTGAAGATGGGTGGCCTGGCCAGTCCCGAACAGTGTCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGGCATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGA
Task1_train_22649
Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCT
TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCCGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCT
Task1_train_22650
This is a variant in GNAO1 (G protein subunit alpha o1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCC
CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGTCGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCC
Task1_train_22651
This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Developmental and epileptic encephalopathy, 17
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22652
The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; GNAO1-related disorder
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22653
Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 17
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22654
A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Neurodevelopmental disorder with involuntary movements
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22655
A genetic alteration is present in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22656
A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Abnormality of the nervous system
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22657
A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Developmental and epileptic encephalopathy, 17
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCCGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
Task1_train_22658
Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGG
GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGAAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGG
Task1_train_22659
A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Developmental and epileptic encephalopathy, 17
CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTC
CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGACGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTC
Task1_train_22660
A mutation on Chromosome 16 affecting GNAO1 (G protein subunit alpha o1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTG
CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCTATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTG
Task1_train_22661
Here is a genetic alteration in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATATGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
Task1_train_22662
This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Developmental and epileptic encephalopathy, 17
CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATTTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
Task1_train_22663
This genomic variant is located on Chromosome 16, within the GNAO1 (G protein subunit alpha o1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Neurodevelopmental disorder with involuntary movements
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAAGGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22664
The gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Neurodevelopmental disorder with involuntary movements
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22665
A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Developmental and epileptic encephalopathy, 17
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22666
Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; GNAO1-related disorder
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22667
This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Inborn genetic diseases
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22668
A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
Task1_train_22669
The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
Task1_train_22670
This mutation is located in gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Neurodevelopmental disorder with involuntary movements
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
Task1_train_22671
A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Inborn genetic diseases
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
Task1_train_22672
The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGCCTGGTGCTGGGCCTGGCACTGGGTGACCTTCCAGCCTGCGGGCCTTGCTGCCTGGAGCACTTGCCC
CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTGTGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGCCTGGTGCTGGGCCTGGCACTGGGTGACCTTCCAGCCTGCGGGCCTTGCTGCCTGGAGCACTTGCCC
Task1_train_22673
This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; not provided
TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGG
TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGACCCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGG
Task1_train_22674
A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22675
Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; GNAO1-related developmental delay-seizures-movement disorder spectrum
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22676
This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Developmental and epileptic encephalopathy, 17
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22677
Given a variant located on Chromosome 16 and affecting GNAO1 (G protein subunit alpha o1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Abnormality of the nervous system
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22678
This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Neurodevelopmental disorder with involuntary movements
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22679
Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Inborn genetic diseases
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
Task1_train_22680
Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Neurodevelopmental disorder with involuntary movements
GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGA
GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGGGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGA
Task1_train_22681
Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGG
CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAATAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGG
Task1_train_22682
This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGT
GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGTTCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGT
Task1_train_22683
The gene GNAO1 (G protein subunit alpha o1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Developmental and epileptic encephalopathy, 17
CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGA
CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGAACAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGA
Task1_train_22684
Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Developmental and epileptic encephalopathy, 17
ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGACGTGTGGGCCAGCAT
ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTCGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGACGTGTGGGCCAGCAT
Task1_train_22685
The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Retinal dystrophy
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22686
The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; BBS2-related disorder
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22687
This alteration in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Retinitis pigmentosa
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22688
A variant found in Chromosome 16 affects BBS2 (Bardet-Biedl syndrome 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Retinitis pigmentosa 74
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22689
Given this variant in gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Bardet-Biedl syndrome 2
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22690
Located on Chromosome 16, this mutation impacts BBS2 (Bardet-Biedl syndrome 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Inborn genetic diseases
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22691
This variant affects the gene BBS2 (Bardet-Biedl syndrome 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Bardet-Biedl syndrome 2
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22692
A genetic alteration is present in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Retinitis pigmentosa 74
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22693
Mutation context: Chromosome 16, Gene BBS2 (Bardet-Biedl syndrome 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Bardet-Biedl syndrome
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
Task1_train_22694
Gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Bardet-Biedl syndrome
GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCTGCAGGGAAGAGTAAAAACAGTTTAAGAACAACTCCAACTTTGGGAAGCTGAGGTGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCTTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGACAGAGGAAGACTCTGTCTCAAAAAAAAAAAAAAGAATGACTCCAAGATGGCACAGGTGCCTCTAAATACCAGCTGTGAGTACTGTCTTACCATTAGAAGTGGAAATGCGTAATTCTGTATGAGCAGTTTGGGTCTCATTCCCCAGGCTGACTGAGAGCGTGGTGTGGAGCCTGGTATTGGCTGGGATTATGCCCCGATGCCCATCAGCCTCGTTCAGTGGACTGGCCAATTCAGCCTGCAAAACACCCCACCCATTTCCTACTCAGTCACCAAAACACTGAACTAATATCAATTTTAAATAATATTGCTATTCAGCTTCAAAAGACAGAGCCTCCAGCATATTATTATTATTATAGTAATCTGATTCTTTAGAATTCAGAGAACTCACCTCATTAGTGCTCCCTTGCTCTATCTGGCCCTGTGGGAAAATACCCTTGCATCTTTCTATGGGTATGGTCCACTGTATCCCATCATGACTTTAACATTTTTGAAGTATTGTTCTTTTAAAGTAAGCAAACAAATTCCCTTGTTACATCAAATTCAAATACAGTAATGCATTACAGGACAAATTAAAGGAATATTTCAGCCAGTTTGCTGTATGCACACACACAGTTTTTACAGTTGTCTGTTTTTAACATGTTTGTTTTTGAAAAAGATAAAAGACATTCTATATTGTTCTTGCCTTTTGTCACTTGGTAAGACGACAGATATCCTTCCATATCAGTCCAAGTATTCATTCTTTGAGCTGCTTAATATTCCTTAGCACATACTCCCTACTGCTGACGAACATCTAAGTTTCTTCCAGCTGTTTTCACTGCTATAAATAAATAGTGCTGCAGGAAATGTCCTTAAACAATCAGGAAAACATTTCTACAGTTTAACTACCTGGAAATGAAATTTCAAGACGAAAGCATATATCCCCTCTCAATTCTGACAATGGCAAAAAGGCCACACCCTGGCAATGACACTCTCATTCTTCCATATTTGCTGATCCTCCCGGTCAGTCTCAACATTTCAGCCTCCATTACCTGGTCACATTAGGACCTACACCTACCTTGGCATTTTCCTCATAGTTACGGAGTTCCAGCAACAGATTCTGCTTCTTCTGACTCAGCTCTCGGATCAGGTCCTGCTCTGCACTGGTGTCCATGAGGTTGCCCCTCATCTCAGCCGTGCCAGGCAGGTAGCCCCGGACTGAACAGAAGGAAAAAACCGCAAGTATAACCAGGTATACTTTTAGGTCATCAATTACCTGCTCTTAAAAACAAAAACCTAAGTTCTCCCCAACTTTGGTGAATTTATTAGAACTACAGGATCTCGGTACAAATACTTCAGGTGAAATTTCCTGATATTTTGACCCAATCAAATGGAAAACGTGACTTTTTAAGGATTTTTCTCATCCCAATTTACTTTCCCCATCCACTGAGCAGCAGATTAACTGTATGTGGCCATCCATCCGGTAATCTCCCTCTACCACACCGGCAATTGCAGAAGAAAAATTGTCCTTAAAGATGACCTCCCCAGTTCGGTCACTTCGAGCATCAACCTACAAATAAAACACAAATTTAAAAGTTGCTTATGCTACATGTTTAAAAACCACAAAATTTAAAAATAAAAATCAGCTTTAAAGGTCATTTAGTCTAGCAGTTTTCAAGAGTATTCTATGAAGCCCTACAACTTCTCAGGAGATACCTATGACTGCTGGGGCCAAGAGGGACCCTAAAGAGCCTCAACCAGCTGTGCTTCCTTCTTTTTAAATAAAAGCTGTTTTTCATAGGCCTTCACACAATGCTTCACTTGAAGAAACGGGTCTGCTAAGAGCCAGTACATATAGTACACACAGCACAGTGCAAAAGGGCATGGGCTTAATGGCCAAACCGCTCAGGTTCAGAATCTAGCTCTGCCACGTACTATCCACAGCATCTTGCAAGTTTCTTAACCATTCTGTGCTTGGTCTTTTCATCTGGGGTTCAATAACCAGAACATGGAGAAATTAACAGTACTATATCCCATTGGGTATAACTGAGGCCTAATGAAGTTAACATATATCAACAGGGCCTGACACACAGAAGTACGTAATAAATGTTAGCTCTATATAAAAATTGTATCTTTATTATATATAAATGTATAAAGTATGTTGAATCTGAAGTTCAGAAACTACGGAGTTAGCCCAGTCTTCCACCATGCAACCTTTTACAACAACCCTGTTAAGAGTTCCTCTTCCACATAAAAACTATTCAGATACTTTAGAGAGCTCTCCTATCCTCTAAGTCTCCCATTTCCAAGAGAGAGAACAAATAAATAAATGACTGATCAGAAACAAATGCATCTCAAAAGTGATAATAAGTGACCATCACTTAAAATGAAGATTATGAGGCCGGGCACAGTGGCTCACGCCTGTAATGCCAGCACTTTGTGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGACAAAGTTAATTGTCT
GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCTGCAGGGAAGAGTAAAAACAGTTTAAGAACAACTCCAACTTTGGGAAGCTGAGGTGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCTTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGACAGAGGAAGACTCTGTCTCAAAAAAAAAAAAAAGAATGACTCCAAGATGGCACAGGTGCCTCTAAATACCAGCTGTGAGTACTGTCTTACCATTAGAAGTGGAAATGCGTAATTCTGTATGAGCAGTTTGGGTCTCATTCCCCAGGCTGACTGAGAGCGTGGTGTGGAGCCTGGTATTGGCTGGGATTATGCCCCGATGCCCATCAGCCTCGTTCAGTGGACTGGCCAATTCAGCCTGCAAAACACCCCACCCATTTCCTACTCAGTCACCAAAACACTGAACTAATATCAATTTTAAATAATATTGCTATTCAGCTTCAAAAGACAGAGCCTCCAGCATATTATTATTATTATAGTAATCTGATTCTTTAGAATTCAGAGAACTCACCTCATTAGTGCTCCCTTGCTCTATCTGGCCCTGTGGGAAAATACCCTTGCATCTTTCTATGGGTATGGTCCACTGTATCCCATCATGACTTTAACATTTTTGAAGTATTGTTCTTTTAAAGTAAGCAAACAAATTCCCTTGTTACATCAAATTCAAATACAGTAATGCATTACAGGACAAATTAAAGGAATATTTCAGCCAGTTTGCTGTATGCACACACACAGTTTTTACAGTTGTCTGTTTTTAACATGTTTGTTTTTGAAAAAGATAAAAGACATTCTATATTGTTCTTGCCTTTTGTCACTTGGTAAGACGACAGATATCCTTCCATATCAGTCCAAGTATTCATTCTTTGAGCTGCTTAATATTCCTTAGCACATACTCCCTACTGCTGACGAACATCTAAGTTTCTTCCAGCTGTTTTCACTGCTATAAATAAATAGTGCTGCAGGAAATGTCCTTAAACAATCAGGAAAACATTTCTACAGTTTAACTACCTGGAAATGAAATTTCAAGACGAAAGCATATATCCCCTCTCAATTCTGACAATGGCAAAAAGGCCACACCCTGGCAATGACACTCTCATTCTTCCATATTTGCTGATCCTCCCGGTCAGTCTCAACATTTCAGCCTCCATTACCTGGTCACATTAGGACCTACACCTACCTTGGCATTTTCCTCATAGTTACGGAGTTCCAGCAACAGATTCTGCTTCTTCTGACTCAGCTCTCGGATCAGGTCCTGCTCTGCACTGGTGTCCATGAGGTTGCCCCTCATCTCAGCCGTGCCAGGCAGGCAGCCCCGGACTGAACAGAAGGAAAAAACCGCAAGTATAACCAGGTATACTTTTAGGTCATCAATTACCTGCTCTTAAAAACAAAAACCTAAGTTCTCCCCAACTTTGGTGAATTTATTAGAACTACAGGATCTCGGTACAAATACTTCAGGTGAAATTTCCTGATATTTTGACCCAATCAAATGGAAAACGTGACTTTTTAAGGATTTTTCTCATCCCAATTTACTTTCCCCATCCACTGAGCAGCAGATTAACTGTATGTGGCCATCCATCCGGTAATCTCCCTCTACCACACCGGCAATTGCAGAAGAAAAATTGTCCTTAAAGATGACCTCCCCAGTTCGGTCACTTCGAGCATCAACCTACAAATAAAACACAAATTTAAAAGTTGCTTATGCTACATGTTTAAAAACCACAAAATTTAAAAATAAAAATCAGCTTTAAAGGTCATTTAGTCTAGCAGTTTTCAAGAGTATTCTATGAAGCCCTACAACTTCTCAGGAGATACCTATGACTGCTGGGGCCAAGAGGGACCCTAAAGAGCCTCAACCAGCTGTGCTTCCTTCTTTTTAAATAAAAGCTGTTTTTCATAGGCCTTCACACAATGCTTCACTTGAAGAAACGGGTCTGCTAAGAGCCAGTACATATAGTACACACAGCACAGTGCAAAAGGGCATGGGCTTAATGGCCAAACCGCTCAGGTTCAGAATCTAGCTCTGCCACGTACTATCCACAGCATCTTGCAAGTTTCTTAACCATTCTGTGCTTGGTCTTTTCATCTGGGGTTCAATAACCAGAACATGGAGAAATTAACAGTACTATATCCCATTGGGTATAACTGAGGCCTAATGAAGTTAACATATATCAACAGGGCCTGACACACAGAAGTACGTAATAAATGTTAGCTCTATATAAAAATTGTATCTTTATTATATATAAATGTATAAAGTATGTTGAATCTGAAGTTCAGAAACTACGGAGTTAGCCCAGTCTTCCACCATGCAACCTTTTACAACAACCCTGTTAAGAGTTCCTCTTCCACATAAAAACTATTCAGATACTTTAGAGAGCTCTCCTATCCTCTAAGTCTCCCATTTCCAAGAGAGAGAACAAATAAATAAATGACTGATCAGAAACAAATGCATCTCAAAAGTGATAATAAGTGACCATCACTTAAAATGAAGATTATGAGGCCGGGCACAGTGGCTCACGCCTGTAATGCCAGCACTTTGTGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGACAAAGTTAATTGTCT
Task1_train_22695
A mutation on Chromosome 16 affecting BBS2 (Bardet-Biedl syndrome 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Bardet-Biedl syndrome 2
ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGCCTCAAAACAAACAAACAAACAAACAAAAAACCAGAACACCATTTTCCTCATCTATAGAAATAATAATAATTTATCTTCCTATTAGGGTTGTTGTAAGGATTCAATATGTTACTTCATATAAAGTACTTAGAGCACTACCTGGCATACAATAGGTACATAATAAATGATTGCCATTATTATTATTTGCATGTATTAACTCATTAAAAGAAATGCCTTTATGTATTCAACTATATGCAATAATTTTTCTCTATTTAATCAGTCTTTTCAAAATATATCTTAATTAGGATTTTTATTGCTTTTCTTACCATAACATACAGCTCTGTCTGACCCCCTCCCCAAGCTTTTATCCTAAAACCACCTGGGTTTGGAGATGCCCCAGCACTCTCACTTGATGTTTCATCTGACAGTACTGATCTATCTTGCTCAAGGTTACCATAGTTCGAGGTGGAGCTTCTTACCTCTGTTTCTGTCATTTCTGCCACAATCTCATCTTCCTTAAAAACTCGGATATCAAAATCCTCAGATCCAACAAGAAGCTGAAGGGGAAATATCATACATGTTCAGGTGAGTAAGTGCAAACAACAAAATTTCTGTAAACAAAACAAAAAATTGCACAGTACTTTGCATGCTGCTTCTGCCACCCAAGATTGACAACCTCATAATCGTTTGATGCTCAGAAATGCTCCCTCTAATGGGAGGATCAGCAGATTCAATCAATGAAGGAACAGGGGCTACTGCAGCTTTTATCCTGCCATGGGAGCTGCACATCTTGCCAGAATACGTTATTTCCCTGAGTACCTGAAAAGGCTCCCTGGATCAGCAACTTTCTCTGCCTACAGATGGAAGCCCTGTTCAAACACCAGAGTCCAGTGTCCATGGACAAGAGAGGGGCAAGTCGGTGCCCAACACAGCACGTCACACCTACTAACTGCTCAAGAAGCTAATTTCTAGGGTAACCATAAGAATAATTTCAAAGGCTAAAAGCCAATCTCTAAAACATTTAGATTCCTCAAAACAGTTGGCCAAAATTGAAAACTATATACTAATATGGTTTCAAAGCATCAGGAGCAATTCATAAGACCGTGAATATGACTGAAATCCCAACTCTTCTACCCTCTCTGCCCTCTCCTGTGTCTCTGAAACACCATGGCTTTGATCTTTGTATTTATTACACAAGCACAAGTGATTTATTGTTCAAAAGAGAAGAGAAAGACGAATGGGGCCAACTGGCTGAGCATTTAGGCAACAGAGCACCAAAATCAGCCAGGAGAAGCTTACACTTCTGTCAACACTAATGTCACTGTCATGGCAAAATTCATTTGGCTGAACACACAAGAGAGATATCTCCTCCCCCACATACCTCTTTCTTTCCATCACCATCAAAGTCACACAAGGCCAAGGAATTAACATTGTCTCCAGTAACCTGAAAATAAAACCCCAAACCATTAGCATGCCATCGTTTCTCCATTTACTCCAAATATATTAGCTACATGAAGGAGAGGATTACACAAAACACGAATGAATGCTATTCGAATTATTCATATCCTTTTTTAATGCACAGAATTATAAATATTATTACTCAGTAGAGTTGGTGGTTAAAAAAGAACATTAAAAGTAAAAATGCTTAAGGGTACCAAAAAGAATGTTTTCTTCTTCATACCGTCCAAAAGAGATCACTTCCTTCATGATTGAAACCTTGCAGAGCACAATTGCCACCAATAATCGCAAGAGGGGAAGAAATGTCTCCCAATGTCCCCAGCACAATTGCATTTGCCCCATCTGCTACCTAAGAAAAGTAAAAGGACACATTATCTTAGACACGATAATATGCAGGCCCACATATTAATTGGGCCAAATTTTGAGTAAACTGAGCAGATTTTGAGTAAAACAGATTATTATCCATAATGTGGGTGGGCCTCACACATTAACTGGCCCACGCACATATGGATAATAATCTACTTTACTATTAAGTCCTTCAATACTTTCTATTAAGAACTTTCTATCAAGTATTGAAGGACTTAATAGAAAAAAGACTGACCTCCCCCAAGGAAGAAGGGATTCTACCAGCAGACAGCCTTTGTACTTGAGCTTCAACATCAATTCTCTCCTAGATCTCCAGCCTGCTGGCCCACCATGCAGATTTTTGACTTGCCAGGCTCCACAACTGCATAAGCCAATTCCTGAAAATAAATATTTCCCCCTCTAATATGTACATGTCCTATTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTCCTAAACTCGATTTCACTTCTGAACAAAAACGATGTGACCTTGAAATAGGCAAAGGGCAGAAAAAGTCCTAACCACTAAAGAAAAAATGTGATCAGCTGGACTTCACAAAAATGCAAAACTTTTGCTCATCAAAAGACACATGCCTAGTGGAACAAGCCACAGGCTGGGAGAAAATATTTATTATATATAAATCTGACAAAGAGTTTGTATCCAGTATATCCAAGAAATGTCTACAAATCAATAATAAAGAGACAAACTACCAATAAAAAATAGGCAAAAGACTTAAGACACTTCACGGAAGACACATAAATGTCCATTTATGCACAAGAAAAGGTGCTCTGCATCAATGATTATCAGGGAAATGCAAAATGAAACCACACCTAAGATATCACTTCACACCTTCCAAAATGGCTAAAATTAAAGACTGGCAACAACAAATGTTGACAAAGGATGTGGAGCAACTGGAACTCTCCTACACTGCAGGCAGGAGTATAAAGTGATACAACCACTTTGCAAAAACAGTTTCACAGTGTCATAAAGTTCTTATAAACCACATAGCCCAGCAATTCCACTCTTGGGTATTTACCCAAGATAAATTAAAACATATATCTACAAAAAGTCTTATATAAAAAAGTCTTATTAAAAACAAGTCTTAAACAAAAATGGTTGTTAAAAACTGAAACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTA
ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGCCTCAAAACAAACAAACAAACAAACAAAAAACCAGAACACCATTTTCCTCATCTATAGAAATAATAATAATTTATCTTCCTATTAGGGTTGTTGTAAGGATTCAATATGTTACTTCATATAAAGTACTTAGAGCACTACCTGGCATACAATAGGTACATAATAAATGATTGCCATTATTATTATTTGCATGTATTAACTCATTAAAAGAAATGCCTTTATGTATTCAACTATATGCAATAATTTTTCTCTATTTAATCAGTCTTTTCAAAATATATCTTAATTAGGATTTTTATTGCTTTTCTTACCATAACATACAGCTCTGTCTGACCCCCTCCCCAAGCTTTTATCCTAAAACCACCTGGGTTTGGAGATGCCCCAGCACTCTCACTTGATGTTTCATCTGACAGTACTGATCTATCTTGCTCAAGGTTACCATAGTTCGAGGTGGAGCTTCTTACCTCTGTTTCTGTCATTTCTGCCACAATCTCATCTTCCTTAAAAACTCGGATATCAAAATCCTCAGATCCAACAAGAAGCTGAAGGGGAAATATCATACATGTTCAGGTGAGTAAGTGCAAACAACAAAATTTCTGTAAACAAAACAAAAAATTGCACAGTACTTTGCATGCTGCTTCTGCCACCCAAGATTGACAACCTCATAATCGTTTGATGCTCAGAAATGCTCCCTCTAATGGGAGGATCAGCAGATTCAATCAATGAAGGAACAGGGGCTACTGCAGCTTTTATCCTGCCATGGGAGCTGCACATCTTGCCAGAATACGTTATTTCCCTGAGTACCTGAAAAGGCTCCCTGGATCAGCAACTTTCTCTGCCTACAGATGGAAGCCCTGTTCAAACACCAGAGTCCAGTGTCCATGGACAAGAGAGGGGCAAGTCGGTGCCCAACACAGCACGTCACACCTACTAACTGCTCAAGAAGCTAATTTCTAGGGTAACCATAAGAATAATTTCAAAGGCTAAAAGCCAATCTCTAAAACATTTAGATTCCTCAAAACAGTTGGCCAAAATTGAAAACTATATACTAATATGGTTTCAAAGCATCAGGAGCAATTCATAAGACCGTGAATATGACTGAAATCCCAACTCTTCTACCCTCTCTGCCCTCTCCTGTGTCTCTGAAACACCATGGCTTTGATCTTTGTATTTATTACACAAGCACAAGTGATTTATTGTTCAAAAGAGAAGAGAAAGACGAATGGGGCCAACTGGCTGAGCATTTAGGCAACAGAGCACCAAAATCAGCCAGGAGAAGCTTACACTTCTGTCAACACTAATGTCACTGTCATGGCAAAATTCATTTGGCTGAACACACAAGAGAGATATCTCCTCCCCCACATACCTCTTTCTTTCCATCACCATCAAAGTCACACAAGGCCAAGGAATTAACATTGTCTCCAGTAACCTGAAAATAAAACCCCAAACCATTAGCATGCCATCGTTTCTCCATTTACTCCAAATATATTAGCTACATGAAGGAGAGGATTACACAAAACACGAATGAATGCTATTCGAATTATTCATATCCTTTTTTAATGCACAGAATTATAAATATTATTACTCAGTAGAGTTGGTGGTTAAAAAAGAACATTAAAAGTAAAAATGCTTAAGGGTACCAAAAAGAATGTTTTCTTCTTCATACCGTCCAAAAGAGATCACTTCCTTCATGATTGAAACCTTGCAGAGCACAATTGCCAACAATAATCGCAAGAGGGGAAGAAATGTCTCCCAATGTCCCCAGCACAATTGCATTTGCCCCATCTGCTACCTAAGAAAAGTAAAAGGACACATTATCTTAGACACGATAATATGCAGGCCCACATATTAATTGGGCCAAATTTTGAGTAAACTGAGCAGATTTTGAGTAAAACAGATTATTATCCATAATGTGGGTGGGCCTCACACATTAACTGGCCCACGCACATATGGATAATAATCTACTTTACTATTAAGTCCTTCAATACTTTCTATTAAGAACTTTCTATCAAGTATTGAAGGACTTAATAGAAAAAAGACTGACCTCCCCCAAGGAAGAAGGGATTCTACCAGCAGACAGCCTTTGTACTTGAGCTTCAACATCAATTCTCTCCTAGATCTCCAGCCTGCTGGCCCACCATGCAGATTTTTGACTTGCCAGGCTCCACAACTGCATAAGCCAATTCCTGAAAATAAATATTTCCCCCTCTAATATGTACATGTCCTATTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTCCTAAACTCGATTTCACTTCTGAACAAAAACGATGTGACCTTGAAATAGGCAAAGGGCAGAAAAAGTCCTAACCACTAAAGAAAAAATGTGATCAGCTGGACTTCACAAAAATGCAAAACTTTTGCTCATCAAAAGACACATGCCTAGTGGAACAAGCCACAGGCTGGGAGAAAATATTTATTATATATAAATCTGACAAAGAGTTTGTATCCAGTATATCCAAGAAATGTCTACAAATCAATAATAAAGAGACAAACTACCAATAAAAAATAGGCAAAAGACTTAAGACACTTCACGGAAGACACATAAATGTCCATTTATGCACAAGAAAAGGTGCTCTGCATCAATGATTATCAGGGAAATGCAAAATGAAACCACACCTAAGATATCACTTCACACCTTCCAAAATGGCTAAAATTAAAGACTGGCAACAACAAATGTTGACAAAGGATGTGGAGCAACTGGAACTCTCCTACACTGCAGGCAGGAGTATAAAGTGATACAACCACTTTGCAAAAACAGTTTCACAGTGTCATAAAGTTCTTATAAACCACATAGCCCAGCAATTCCACTCTTGGGTATTTACCCAAGATAAATTAAAACATATATCTACAAAAAGTCTTATATAAAAAAGTCTTATTAAAAACAAGTCTTAAACAAAAATGGTTGTTAAAAACTGAAACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTA
Task1_train_22696
Here is a variant affecting BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Bardet-Biedl syndrome
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
Task1_train_22697
Chromosome 16 houses a mutation in gene BBS2 (Bardet-Biedl syndrome 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Retinitis pigmentosa
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
Task1_train_22698
This variant affects gene BBS2 (Bardet-Biedl syndrome 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Retinitis pigmentosa 74
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
Task1_train_22699
A variant was discovered on Chromosome 16, affecting BBS2 (Bardet-Biedl syndrome 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Bardet-Biedl syndrome 2
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT