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_500
|
This variant affects the gene ALPL (alkaline phosphatase, biomineralization associated) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Adult hypophosphatasia
|
TGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTG
|
TGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACCCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTG
|
Task1_train_501
|
This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hypophosphatasia
|
CACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGG
|
CACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGTCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGG
|
Task1_train_502
|
A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Hypophosphatasia
|
GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_503
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Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Osteogenesis imperfecta
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_504
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A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Adult hypophosphatasia
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_505
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Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Childhood hypophosphatasia
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_506
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A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; ALPL-related disorder
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
|
Task1_train_507
|
This alteration in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Childhood hypophosphatasia
|
GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_508
|
This alteration in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Adult hypophosphatasia
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_509
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Infantile hypophosphatasia
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCA
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Task1_train_510
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Adult hypophosphatasia
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TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGA
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TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCCGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGA
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Task1_train_511
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This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hypophosphatasia
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TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGA
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TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCCGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGA
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Task1_train_512
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Located on Chromosome 1, this mutation impacts ALPL (alkaline phosphatase, biomineralization associated). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hypophosphatasia
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CAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACC
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CAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACAGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACC
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Task1_train_513
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A genomic change on Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hypophosphatasia
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ACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCC
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ACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCAAGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCC
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Task1_train_514
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This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypophosphatasia
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATGGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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Task1_train_515
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A mutation on Chromosome 1 affecting ALPL (alkaline phosphatase, biomineralization associated) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Adult hypophosphatasia
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATGGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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Task1_train_516
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This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Adult hypophosphatasia
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATGGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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Task1_train_517
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Childhood hypophosphatasia
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATGGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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Task1_train_518
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Mutation context: Chromosome 1, Gene ALPL (alkaline phosphatase, biomineralization associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Infantile hypophosphatasia
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATGGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCC
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Task1_train_519
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Here is a mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_520
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A mutation in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Childhood hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_521
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This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Adult hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_522
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_523
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A variant was discovered on Chromosome 1, affecting ALPL (alkaline phosphatase, biomineralization associated). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Adult hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_524
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This sequence variant lies in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Childhood hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_525
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A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Infantile hypophosphatasia
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGTCCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTAC
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Task1_train_526
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Consider a variant on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated). Determine its clinical classification and disease relevance.
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Pathogenic; Adult hypophosphatasia
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGACACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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Task1_train_527
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This variant impacts the gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Adult hypophosphatasia
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGACACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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Task1_train_528
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A genomic change on Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Childhood hypophosphatasia
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGACACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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Task1_train_529
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Given this context: Chromosome 1, gene ALPL (alkaline phosphatase, biomineralization associated) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Infantile hypophosphatasia
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGACACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTAT
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Task1_train_530
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A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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CTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTC
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CTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTACCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTC
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Task1_train_531
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Consider a variant on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated). Determine its clinical classification and disease relevance.
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Pathogenic; Adult hypophosphatasia
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCGCTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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Task1_train_532
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A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Childhood hypophosphatasia
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCGCTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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Task1_train_533
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This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Infantile hypophosphatasia
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCGCTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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Task1_train_534
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypophosphatasia
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCGCTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGG
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Task1_train_535
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This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hypophosphatasia
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GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCC
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GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCATGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCC
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Task1_train_536
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This alteration occurs within gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Adult hypophosphatasia
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GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCC
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GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCATGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCC
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Task1_train_537
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Here is a mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Adult hypophosphatasia
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCAGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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Task1_train_538
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Chromosome 1 houses a mutation in gene ALPL (alkaline phosphatase, biomineralization associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Adult hypophosphatasia
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCAGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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Task1_train_539
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This variant lies on Chromosome 1 and affects the gene ALPL (alkaline phosphatase, biomineralization associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Childhood hypophosphatasia
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCAGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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Task1_train_540
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Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Infantile hypophosphatasia
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCAGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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Task1_train_541
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A mutation on Chromosome 1 affecting ALPL (alkaline phosphatase, biomineralization associated) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypophosphatasia
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCAGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTG
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Task1_train_542
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Chromosome 1 houses a mutation in gene ALPL (alkaline phosphatase, biomineralization associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hypophosphatasia
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ATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAA
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ATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACAAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAA
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Task1_train_543
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A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Infantile hypophosphatasia
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ATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGC
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ATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGC
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Task1_train_544
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A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Adult hypophosphatasia
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGTGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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Task1_train_545
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This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Adult hypophosphatasia
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGTGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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Task1_train_546
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Here’s a variant in ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Childhood hypophosphatasia
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGTGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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Task1_train_547
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This sequence change occurs on Chromosome 1, altering ALPL (alkaline phosphatase, biomineralization associated). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Infantile hypophosphatasia
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGTGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAG
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Task1_train_548
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An alteration has been detected in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Hypophosphatasia
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CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAG
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CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCAGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAG
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Task1_train_549
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Adult hypophosphatasia
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CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAG
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CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCAGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAG
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Task1_train_550
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Here is a variant affecting ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGG
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CTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGCGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGG
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Task1_train_551
|
Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Adult hypophosphatasia
|
GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGACGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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Task1_train_552
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Consider this mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Childhood hypophosphatasia
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGACGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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Task1_train_553
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A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Infantile hypophosphatasia
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGACGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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Task1_train_554
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The gene ALPL (alkaline phosphatase, biomineralization associated), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Adult hypophosphatasia
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGACGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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Task1_train_555
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A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hypophosphatasia
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGACGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAG
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Task1_train_556
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This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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GGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATAT
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GGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGAAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATAT
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Task1_train_557
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The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Childhood hypophosphatasia
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AGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACA
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AGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAAACTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACA
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Task1_train_558
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This gene mutation involves USP48 (ubiquitin specific peptidase 48) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hearing loss, autosomal dominant 85
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AATTTAGTTAAAATATATTCTTATAGACTTGGCAATTTTTGTTTACATTTTGCTTAAAGTTATACTAGTAATGGAAAATTAAGATATTAAAAAGACAAACCACAAGTACAATTATGCTTAAGTATTTATTTTCTAAAGTAAGGACTAAATTGTCTCTCTTCCTTAAGTAGGAATTAGGCTTGGGGAATTCATGTCTTTAAAATGACAAAGATAACTTAATACAAATGGCACATCAGCCTTTAAAAAGGCTTAATTTGGTTTCATTTTGAGACATCAGGTAAACCTGAATAAACATATACAGAAAAGGGATAAGCTGGATTATGTGGGATATTTCTAAGAAATCAGGGGTCAGCAGAAAGCTTTTCTACTCTTAGCATAATATTTGGTATTAAACTTCAAGTTAATCTAATAGTATCAAAAAAACTGTATTCATATAATAGAATGTCTGTTAAAACTGTTAGGTCACAAAGTATGCAAAGAAACAGAACAGGCAAGTTGCTTTTTCCATAGTAATCCAATCGGATTTTTCTTAAACAAGTTAATATCTCACAAAATATAAATATCTACAATACTCATGGATGCAGAGTGCTGACCTAAATGTTATAATTTATTAACAGCTTCCCATTTTTAGGAGTACAACGTAATGAAATAATATGGAATGCTACACATCAAGTTATTGTTGGTTTACAAAGTACTTTTAGAGTGTTTAAGCTGGCTTTAGTGGGTTATTAGAAAGAGTAAGTTTGAGAAAGTTTCTTCATATACATTTGTGAACATAAAAAAACAAGGCACTTAATGGCAACAGTGCTGTCCCAGAATATCTTACAGACCAGCTCCAGCAGGTAACCTTTGGTACAGCTCCTTAACCTCTTCGTGTTTTGCTTTTCCTTTATCCACACTTTGCTTACGCATCTCAGCCATTTCAATACACCACTCCTCAAATTTGGAATTATCCCGATCTACCAGCTCTTGAAGAAAGGCTATTCAAAACAGAAAGACAAAAAACAACTTTATTCTTGTTTTCACATATAGTGAACCATGCTAATCTCTAAATCATATCAAATACTGATTAAAACATTGGCAGAAATTCCAACTATGGTCTCCCTGTCTGCTAGAAACCTCCAAACTGAAGGCAGAAGTAAAAGTGAAGACAGCCACTGGAATAATCCTAAATTGATTCCCCCCACCTAGCTCTCCATGACATCATCAGCCTCCCAGAACAATCGAATGGCTCAAAATCACCACTTTAGAATAGATGACGCCAGGCGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCGTGAGGTCAAGAATTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAGAACTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGGCGAAAGAATGAGACTCCGCCTCAAAAAAAAAAAAAAAAGAAAGAATAGATGATGCCACCAAGCTTAGAAAAGTGCTGAGTAAAATGATTCAGACTCAGACTGTCTTCAGGGCAGCAACAACTCTACCTTTTATATTATGAAGTCTAGAATATCTATAGATAATTAAATAAAATTCACAAATACTCTATAAACCGAACAAAATAAAACCAAATTATACTTTAAATACATGTTTTGATTACTTTCTGATTTTTTAATAATTGCATTGCTTTATTTCAGAAGCTCCTTTCTTAAAAGTAAATTTGCAATTAATATTTACTTTCACCAACATTCACCTTATGGAATCAATTTATCATAGTAACTAAAAGCAATCCATTACTTATCATTAATCTTTGAGTATGGCATTCTAAAACATTTGCCTGCTATAATCCTGGAAAACTGCTTTACCTGGAACTTGAACAGTAGTGTTGGGCTTTTCTTGAGTTTGCAGTCTATAAACCAACATATATGCATTTCGAGAGCAATGAGTTCCTTTGCCACACTTGGGTTTACGTGTCTGAGACTTAGAAGGTTCTGCTGAGATAGAGAAATCAAAAGGTACCTTAACTTAAGTGCCTAGAGTTTGTTTATTCTTTAGCGGGGCTATAGAAAACAATTTCCAAAATATACACCCAAGACACATTAACACCAATCTAAAACATTCAAAGGCCATAGAAATTTGGCAGGCTCTTTAGCTTTAATATTTAAAAAAGTTTACTACCACTATTGCCTGCCACATTCTATTTTTTAAAGGTAAAAAGAAAATACATTTTTCTGGGGAACAAACCTAGAACAACAACAAAAAAATCACTATTGCCATAAGCTGATTTTTATGTTAGTCTTAAATTACAAAAATTAACTGAAGCCGGGCACAGTGGCTCATGCTTGTAATCATAGCACTCTAGGAGGCCAAGATGGGCAGATCACTTGAAGCCAGAAGTTCAAGACCAGCCTGGCCAAAACATGGAGAAGCCCTGTCTCTACTAATAATACAAAAATTAAGCAGGTGTGGTGGTGCGCACCTGCAGTCCACCTACTTGGGAGGCTGACACAAGTGAATCGATTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCATGAAAAAGAAAAAGTTAAATTAAATTAAATTAAAAAATAAAAACAGGCCAGGTGCGGTGGCTCACACCTGGCCAACATGGTGAAAACCCATCTGTCTAAAAACACAAAAATTAGTCGGGCATGTTGGCACATGCCTGTAATCCCAGCTATTCGGGAGCCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGTGTCACTGCACTCCTGTCTGGGGGACAGAGTGAAACTCTGCCTCAAAAAAATAAATAAATAAAAATCAAGACTGATGCAATCACTAAAGGGAATATGGGACTTCAACTCTACTGGAAATATTTTTATTCTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGGCAGGCTAGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGTGTCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGAGAAGATTTCACCATGTTGGCCAGGATGGTCTCGATCTACTGACCTCACAATCTGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCTGAAATATTTTTATTCTCAATGATTGCTTGGTACACAAGTATTTGTTTTAATGTTGTTTTTTAATAAAAGTATATATAAAATGTATATGTACAGTTTGAAAAATAAAAATTAGCTCAGTAATCATTTTAGTAAACAGATTTTCTTCAATTTAGTCAAAATAATACAAATAAATCTAGACTTAATTGCCCAAATAAATAAAATAGCATATTTTCTTTTCTTTTTTTGAGACAGAATTTCGCTCGTCTCCCAGGCTGGAGTGGAATGGCACGATCTCAGTGTACTGCAATCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCCATTAGCTAGGATTACAGGCGTGTGTCACCACGCCAGGGTAATTTTTGCATTTTTAGTGGAGATGAGGATTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCCCACCCAGCCTAAAATAGCATAATTTTTAAAAATGAAATGAAATGGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACACAGTAAAAGCCCGTATCTACTAAAACTATAAAAATTAGCCAGGGGTCTGTAATCCCAGCTACTCAGGAGGCTGATGCAGCAGAATCAGTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGTAC
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AATTTAGTTAAAATATATTCTTATAGACTTGGCAATTTTTGTTTACATTTTGCTTAAAGTTATACTAGTAATGGAAAATTAAGATATTAAAAAGACAAACCACAAGTACAATTATGCTTAAGTATTTATTTTCTAAAGTAAGGACTAAATTGTCTCTCTTCCTTAAGTAGGAATTAGGCTTGGGGAATTCATGTCTTTAAAATGACAAAGATAACTTAATACAAATGGCACATCAGCCTTTAAAAAGGCTTAATTTGGTTTCATTTTGAGACATCAGGTAAACCTGAATAAACATATACAGAAAAGGGATAAGCTGGATTATGTGGGATATTTCTAAGAAATCAGGGGTCAGCAGAAAGCTTTTCTACTCTTAGCATAATATTTGGTATTAAACTTCAAGTTAATCTAATAGTATCAAAAAAACTGTATTCATATAATAGAATGTCTGTTAAAACTGTTAGGTCACAAAGTATGCAAAGAAACAGAACAGGCAAGTTGCTTTTTCCATAGTAATCCAATCGGATTTTTCTTAAACAAGTTAATATCTCACAAAATATAAATATCTACAATACTCATGGATGCAGAGTGCTGACCTAAATGTTATAATTTATTAACAGCTTCCCATTTTTAGGAGTACAACGTAATGAAATAATATGGAATGCTACACATCAAGTTATTGTTGGTTTACAAAGTACTTTTAGAGTGTTTAAGCTGGCTTTAGTGGGTTATTAGAAAGAGTAAGTTTGAGAAAGTTTCTTCATATACATTTGTGAACATAAAAAAACAAGGCACTTAATGGCAACAGTGCTGTCCCAGAATATCTTACAGACCAGCTCCAGCAGGTAACCTTTGGTACAGCTCCTTAACCTCTTCGTGTTTTGCTTTTCCTTTATCCACACTTTGCTTACGCATCTCAGCCATTTCAATACACCACTCCTCAAATTTGGAATTATCCCGATCTACCAGCTCTTGAAGAAAGGCTATTCAAAACAGAAAGACAAAAAACAACTTTATTCTTGTTTTCACATATAGTGAACCATGCTAATCTCTAAATCATATCAAATACTGATTAAAACATTGGCAGAAATTCCAACTATGGTCTCCCTGTCTGCTAGAAACCTCCAAACTGAAGGCAGAAGTAAAAGTGAAGACAGCCACTGGAATAATCCTAAATTGATTCCCCCCACCTAGCTCTCCATGACATCATCAGCCTCCCAGAACAATCGAATGGCTCAAAATCACCACTTTAGAATAGATGACGCCAGGCGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCGTGAGGTCAAGAATTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAGAACTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGGCGAAAGAATGAGACTCCGCCTCAAAAAAAAAAAAAAAAGAAAGAATAGATGATGCCACCAAGCTTAGAAAAGTGCTGAGTAAAATGATTCAGACTCAGACTGTCTTCAGGGCAGCAACAACTCTACCTTTTATATTATGAAGTCTAGAATATCTATAGATAATTAAATAAAATTCACAAATACTCTATAAACCGAACAAAATAAAACCAAATTATACTTTAAATACATGTTTTGATTACTTTCTGATTTTTTAATAATTGCATTGCTTTATTTCAGAAGCTCCTTTCTTAAAAGTAAATTTGCAATTAATATTTACTTTCACCAACATTCACCTTATGGAATCAATTTATCATAGTAACTAAAAGCAATCCATTACTTATCATTAATCTTTGAGTATGGCATTCTAAAACATTTGCCTGCTATAATCCTGGAAAACTGCTTTACCTGGAACTTGAACAGTAGTGTTGGGCTTTTCTTGAGTTTGCAGTCTATAAACCAACATATATGCATTTCGAGAGCAATGAGTTCTTTTGCCACACTTGGGTTTACGTGTCTGAGACTTAGAAGGTTCTGCTGAGATAGAGAAATCAAAAGGTACCTTAACTTAAGTGCCTAGAGTTTGTTTATTCTTTAGCGGGGCTATAGAAAACAATTTCCAAAATATACACCCAAGACACATTAACACCAATCTAAAACATTCAAAGGCCATAGAAATTTGGCAGGCTCTTTAGCTTTAATATTTAAAAAAGTTTACTACCACTATTGCCTGCCACATTCTATTTTTTAAAGGTAAAAAGAAAATACATTTTTCTGGGGAACAAACCTAGAACAACAACAAAAAAATCACTATTGCCATAAGCTGATTTTTATGTTAGTCTTAAATTACAAAAATTAACTGAAGCCGGGCACAGTGGCTCATGCTTGTAATCATAGCACTCTAGGAGGCCAAGATGGGCAGATCACTTGAAGCCAGAAGTTCAAGACCAGCCTGGCCAAAACATGGAGAAGCCCTGTCTCTACTAATAATACAAAAATTAAGCAGGTGTGGTGGTGCGCACCTGCAGTCCACCTACTTGGGAGGCTGACACAAGTGAATCGATTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCATGAAAAAGAAAAAGTTAAATTAAATTAAATTAAAAAATAAAAACAGGCCAGGTGCGGTGGCTCACACCTGGCCAACATGGTGAAAACCCATCTGTCTAAAAACACAAAAATTAGTCGGGCATGTTGGCACATGCCTGTAATCCCAGCTATTCGGGAGCCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGTGTCACTGCACTCCTGTCTGGGGGACAGAGTGAAACTCTGCCTCAAAAAAATAAATAAATAAAAATCAAGACTGATGCAATCACTAAAGGGAATATGGGACTTCAACTCTACTGGAAATATTTTTATTCTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGGCAGGCTAGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGTGTCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGAGAAGATTTCACCATGTTGGCCAGGATGGTCTCGATCTACTGACCTCACAATCTGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCTGAAATATTTTTATTCTCAATGATTGCTTGGTACACAAGTATTTGTTTTAATGTTGTTTTTTAATAAAAGTATATATAAAATGTATATGTACAGTTTGAAAAATAAAAATTAGCTCAGTAATCATTTTAGTAAACAGATTTTCTTCAATTTAGTCAAAATAATACAAATAAATCTAGACTTAATTGCCCAAATAAATAAAATAGCATATTTTCTTTTCTTTTTTTGAGACAGAATTTCGCTCGTCTCCCAGGCTGGAGTGGAATGGCACGATCTCAGTGTACTGCAATCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCCATTAGCTAGGATTACAGGCGTGTGTCACCACGCCAGGGTAATTTTTGCATTTTTAGTGGAGATGAGGATTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCCCACCCAGCCTAAAATAGCATAATTTTTAAAAATGAAATGAAATGGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACACAGTAAAAGCCCGTATCTACTAAAACTATAAAAATTAGCCAGGGGTCTGTAATCCCAGCTACTCAGGAGGCTGATGCAGCAGAATCAGTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGTAC
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Task1_train_559
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Here is a variant affecting HSPG2 (heparan sulfate proteoglycan 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Schwartz-Jampel syndrome type 1
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GGACGTGGGTGGATCACCTGAGATCAGGAGTTAGAGACCAGCCTGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTCGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGGTGAAACCCCGCCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTGTCTTGAAAAAAAAAAGAAAAAGAAAAGAAAAAGAAAATACGTGCATCCTCATAAAAACATGTGGGTTACAGATTCTCCTCCAAAGAGATTCACGTTTGTGGTATCAACAATAGGGTGTTCCTTGCTCCAAGTTTAGGTTATGGCTGTCAACCACCTGCCCCTTCACTGCGTACCCTGGGGGGCTATATACATGCTACTCTGAAAAGTCAAGGTATAAAAAATATATGTAATGAGGCCAGGCACAGTGGCTCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGATTCACTTGAACCCAGGAGGCAGAACGAGACTGAGACCCTGTCTCAAAAAAAAAAAAAAAGTAAAAAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGGTTGCTTGAGCTCAGGAGTTTAAGACCTTCTGAGCAACAAAGTGAGACCCCATCTGTATTAGATAAAAAAAATTTTTTTAAGAAAAAGAAAAAAATAGTAAAGAACCAAAGTTTTCTTTACACAGAAGGATGTTATTCCATAGCTCTGGCCACCCCACCATCCCCGGTGACCTGGCCTGCTGACCCAGGTGCTTTGAACCACAGGCCATGCCCCATGATCCTGATCCCCTGGATTGATGCCTGCCTTGTCCAGCCCTGGTCCCCCACCCAGGCCCAGCTGAGCTGACCCCCTGTCCTGGCCTCGCTTGCAGCTCACCGAGCAGGCCCCAGTCTCTGGGTGGCACAGGTCTGAGTGGCCATTGCATTCACATAGCTCGCAGTGGCCGAGGTAGAGCCCACTCCCGGTGCGCGTGTAGCCGGGGGCACAGTCCTAGGGGCAGAGAGGAAGGTTGGCCTCTGTTCCCAACGTGCCCCACCCACAGCCAGCAGACCCAGAACCCCTCCCTCCAGTGTCCTCCCAGGGGTGACCCTGGAACATCACAGGCCGGCGCCCCTCCTTCCCCACTTCTGCTCAGTCTGTCCTCCCACCCACGGCCCTCTCCCAGTCCACACTGTTCACCTCTGGGAGGCATCTCTATGCTGTGCTTTGGGCCGGAGTAATCTGTGTTTCTGAATTGGCTCCCTGTCTCTGGTGGGCCCCCTCAAGGGCATGAACTGGGTTTTAACCCCCGGAGAGTGTGGCCCAAACGTGAGGCTGCACTGCCCAGTGGTTAGGACATGCTAGGCTTTGGAGTCAATCAGACCCAGGTTCAAATTAGTTTCTGCCACACATTAGCCGTGTGCCCTTGGGACACACTCACCCCTCAGCACCTCTATTTTTTTACCTGTTAAAGGGGATAATGATATGTAACTCAGGGCTGTCGGGAGGAATACATGCAGGGCCCAGATGCAGGGGTCATTATAGTTATGATGGTAATCAAGGCTGCGGCGACGCCGGCTGATTTGCTTGCTGATGCCTCTGTGCCTGTGCAGAGGTGGTGGAGCTGGCCACACACTCACCTGGCAGGACAGACCGATGTAGCCTGGCGGGCAGCGGCACTCCTCCACCTCGAGGGCGCGGGGTCTGTTTGAGGGCCCCGGCTGGGCGACCTCCAGGCTGACTGCGCTGATGCTGGCCGCCAGCGGCACGGAGGAGAACGTGGCCCGGATCAGGAGCTCATCCAGGTCGGCCAGTGCCATCAGGAGGTGCTCGCGTGTGGCCGGCTGCCCATCGGGCCGGCGCCAGAATTCCTGGGTTGGGGGTGGCAACGTGGGCGGGGGCAGTGGGCTTTGTGGGCTGCTCCTACAGTTACCACCCCCCAAATCCTGCCTTACAGGCACTGACTGAGGGCTGCCAGGTGAAGGTTGGGGAGCGAGAGACAGGGTGGGTATCAAAGCCAGGCTCTGAGTCAGGGTGGAGGGTGGGGTGGGGTTAGACACAGCATGGCCAGGTGCCCCTTACCTCTCGGAACATGATCTCGTAGCTCCTCCTCTCAGGGCCCTGCAGCGCTGGCTGGGAGGCCACTAGCATGATGTTGTTGCCCTGGAAAGACACCAGCAGGATTGGAAGGGGAGCCGAGGGGTCCCTGGGGTGCCAGGGTGTCCTCCACCAGTCCTAGATTCTCTGTAACCCCCAGCCTCCCACCTCTCTGCTCTCCCAAGCTCATGCGCCCAAAGGAGTCAGGCACATGCCCACTGCCCCCTTCTCCCAGCAGCAGGATCCTCTGCTTGGGTAGTGTCCAACCAGGCAGGGATGTGGGGGCATGGGCCTAACTCCCCCAGCCTGTGCCAGAAAACTGAGTGCTGGATGGAAAGGACAAAGGACAAATGCCGAGGGTGCCCCTGGCTTCCATCCTGCCCTTCTGCCCACCCAGCATGGTGTCCAAATGCTCACCGTGATCTGCACATCGGGGTCAGAGAGTGGGCTGCCCTGTGGGCCTGCTGTGTAGGAGAGGGTGTATCGCAACTTCCCACCGTAGGCCGCCACCTGCAAAGAGGCAAGCCCAGAGGTCACAGGCTGACCTTGGGGTGTGAGTGTTGGACCATATAGGTGAGGGATGGAGCATCTGGCGGCCTTTTTGCACCTGTGCCACACTCCCCCACCCCCCTCCCTGCCCAAACCAAGAGGCCAGGGTGCATGGTTGCCTGGGAAACAGGACATTTCTCAGTTCCTCTGTAGCCCCAGACATGGTGGTGATGATGCTGAGCAGCCTCTTTGCTCTGCAAGGTTCTCTATTCCCCATTGCCTGACGGTGCCGGCGAACAAACTCCAGGTCTGCTTTCATTTACAGGAATTTCCCATAAGGCAGACAAGTGTAATGACAATGACCACCATGGGGAGGCTGCGGAAGCTTCAAAAGTTCTCAGCCATGGGGGTGGGGCTGACGGCAGCCCCTCGGAGGCCTTGCCTCCTAGGCAGGTGGTTTTTGTTTGCCCAGTATCCAGTTCCTGCTTTCTAGAAACTAAACCGTGGTTTTCTATAAAGAACAACTGTCTCCGCACATGCAGACCATGTGGTCTGAGGGCCCTGATCCCCTCCTCCTCTATAGTGGAGACATGAGCCAGGCCTGGCCAATCTGCATAACCTACCACTGCCCTTTGCCACCCCATCAGGGATAGACAAGTAACCCGTGCACTTATGCTCTTTCTACCAGGCCAGAGAAAGTCCCTTCTGCAGTCAGATGAGAAGCTGGAGAACCAAGATAAAGCCCTAATGAGCCCCTGGATAAGGCCATGCCTGACACCATACATGCTTAGACTCTGCAGTTGCATGAGCCGATAGATTCTTTGTTGCAGACAAGCCCACTGGACTTGGGCACTGTGTTGCTCATGACTGGGGAGTCCTTACTTCTGCTGCAGAGGACCTTCACGTGGACAGCTGAGGCTCCCCAGCTCTGTCCCACAGGACTTTGCTTTCTCTCCTCTGCCACCAGGGCAGACATTCATCTCAATACCAAACTGCATCAAGCCTACCTCTTTGTTCATTTGTGTGTTCACTCAGCTAACCAGCATTTATCAAACACCTGCTGATTACACACACGGCCCTGGGCTACATGGCTACAGGGATATTCTCCATGAGCTCAAGGCATGGTAAGGAAT
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GGACGTGGGTGGATCACCTGAGATCAGGAGTTAGAGACCAGCCTGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTCGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGGTGAAACCCCGCCTCTACTAAAAACACAAAAAATTAGCCGGGTGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTGTCTTGAAAAAAAAAAGAAAAAGAAAAGAAAAAGAAAATACGTGCATCCTCATAAAAACATGTGGGTTACAGATTCTCCTCCAAAGAGATTCACGTTTGTGGTATCAACAATAGGGTGTTCCTTGCTCCAAGTTTAGGTTATGGCTGTCAACCACCTGCCCCTTCACTGCGTACCCTGGGGGGCTATATACATGCTACTCTGAAAAGTCAAGGTATAAAAAATATATGTAATGAGGCCAGGCACAGTGGCTCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGATTCACTTGAACCCAGGAGGCAGAACGAGACTGAGACCCTGTCTCAAAAAAAAAAAAAAAGTAAAAAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGGTTGCTTGAGCTCAGGAGTTTAAGACCTTCTGAGCAACAAAGTGAGACCCCATCTGTATTAGATAAAAAAAATTTTTTTAAGAAAAAGAAAAAAATAGTAAAGAACCAAAGTTTTCTTTACACAGAAGGATGTTATTCCATAGCTCTGGCCACCCCACCATCCCCGGTGACCTGGCCTGCTGACCCAGGTGCTTTGAACCACAGGCCATGCCCCATGATCCTGATCCCCTGGATTGATGCCTGCCTTGTCCAGCCCTGGTCCCCCACCCAGGCCCAGCTGAGCTGACCCCCTGTCCTGGCCTCGCTTGCAGCTCACCGAGCAGGCCCCAGTCTCTGGGTGGCACAGGTCTGAGTGGCCATTGCATTCACATAGCTCGCAGTGGCCGAGGTAGAGCCCACTCCCGGTGCGCGTGTAGCCGGGGGCACAGTCCTAGGGGCAGAGAGGAAGGTTGGCCTCTGTTCCCAACGTGCCCCACCCACAGCCAGCAGACCCAGAACCCCTCCCTCCAGTGTCCTCCCAGGGGTGACCCTGGAACATCACAGGCCGGCGCCCCTCCTTCCCCACTTCTGCTCAGTCTGTCCTCCCACCCACGGCCCTCTCCCAGTCCACACTGTTCACCTCTGGGAGGCATCTCTATGCTGTGCTTTGGGCCGGAGTAATCTGTGTTTCTGAATTGGCTCCCTGTCTCTGGTGGGCCCCCTCAAGGGCATGAACTGGGTTTTAACCCCCGGAGAGTGTGGCCCAAACGTGAGGCTGCACTGCCCAGTGGTTAGGACATGCTAGGCTTTGGAGTCAATCAGACCCAGGTTCAAATTAGTTTCTGCCACACATTAGCCGTGTGCCCTTGGGACACACTCACCCCTCAGCACCTCTATTTTTTTACCTGTTAAAGGGGATAATGATATGTAACTCAGGGCTGTCGGGAGGAATACATGCAGGGCCCAGATGCAGGGGTCATTATAGTTATGATGGTAATCAAGGCTGCGGCGACGCCGGCTGATTTGCTTGCTGATGCCTCTGTGCCTGTGCAGAGGTGGTGGAGCTGGCCACACACTCACCTGGCAGGACAGACCGATGTAGCCTGGCGGGTAGCGGCACTCCTCCACCTCGAGGGCGCGGGGTCTGTTTGAGGGCCCCGGCTGGGCGACCTCCAGGCTGACTGCGCTGATGCTGGCCGCCAGCGGCACGGAGGAGAACGTGGCCCGGATCAGGAGCTCATCCAGGTCGGCCAGTGCCATCAGGAGGTGCTCGCGTGTGGCCGGCTGCCCATCGGGCCGGCGCCAGAATTCCTGGGTTGGGGGTGGCAACGTGGGCGGGGGCAGTGGGCTTTGTGGGCTGCTCCTACAGTTACCACCCCCCAAATCCTGCCTTACAGGCACTGACTGAGGGCTGCCAGGTGAAGGTTGGGGAGCGAGAGACAGGGTGGGTATCAAAGCCAGGCTCTGAGTCAGGGTGGAGGGTGGGGTGGGGTTAGACACAGCATGGCCAGGTGCCCCTTACCTCTCGGAACATGATCTCGTAGCTCCTCCTCTCAGGGCCCTGCAGCGCTGGCTGGGAGGCCACTAGCATGATGTTGTTGCCCTGGAAAGACACCAGCAGGATTGGAAGGGGAGCCGAGGGGTCCCTGGGGTGCCAGGGTGTCCTCCACCAGTCCTAGATTCTCTGTAACCCCCAGCCTCCCACCTCTCTGCTCTCCCAAGCTCATGCGCCCAAAGGAGTCAGGCACATGCCCACTGCCCCCTTCTCCCAGCAGCAGGATCCTCTGCTTGGGTAGTGTCCAACCAGGCAGGGATGTGGGGGCATGGGCCTAACTCCCCCAGCCTGTGCCAGAAAACTGAGTGCTGGATGGAAAGGACAAAGGACAAATGCCGAGGGTGCCCCTGGCTTCCATCCTGCCCTTCTGCCCACCCAGCATGGTGTCCAAATGCTCACCGTGATCTGCACATCGGGGTCAGAGAGTGGGCTGCCCTGTGGGCCTGCTGTGTAGGAGAGGGTGTATCGCAACTTCCCACCGTAGGCCGCCACCTGCAAAGAGGCAAGCCCAGAGGTCACAGGCTGACCTTGGGGTGTGAGTGTTGGACCATATAGGTGAGGGATGGAGCATCTGGCGGCCTTTTTGCACCTGTGCCACACTCCCCCACCCCCCTCCCTGCCCAAACCAAGAGGCCAGGGTGCATGGTTGCCTGGGAAACAGGACATTTCTCAGTTCCTCTGTAGCCCCAGACATGGTGGTGATGATGCTGAGCAGCCTCTTTGCTCTGCAAGGTTCTCTATTCCCCATTGCCTGACGGTGCCGGCGAACAAACTCCAGGTCTGCTTTCATTTACAGGAATTTCCCATAAGGCAGACAAGTGTAATGACAATGACCACCATGGGGAGGCTGCGGAAGCTTCAAAAGTTCTCAGCCATGGGGGTGGGGCTGACGGCAGCCCCTCGGAGGCCTTGCCTCCTAGGCAGGTGGTTTTTGTTTGCCCAGTATCCAGTTCCTGCTTTCTAGAAACTAAACCGTGGTTTTCTATAAAGAACAACTGTCTCCGCACATGCAGACCATGTGGTCTGAGGGCCCTGATCCCCTCCTCCTCTATAGTGGAGACATGAGCCAGGCCTGGCCAATCTGCATAACCTACCACTGCCCTTTGCCACCCCATCAGGGATAGACAAGTAACCCGTGCACTTATGCTCTTTCTACCAGGCCAGAGAAAGTCCCTTCTGCAGTCAGATGAGAAGCTGGAGAACCAAGATAAAGCCCTAATGAGCCCCTGGATAAGGCCATGCCTGACACCATACATGCTTAGACTCTGCAGTTGCATGAGCCGATAGATTCTTTGTTGCAGACAAGCCCACTGGACTTGGGCACTGTGTTGCTCATGACTGGGGAGTCCTTACTTCTGCTGCAGAGGACCTTCACGTGGACAGCTGAGGCTCCCCAGCTCTGTCCCACAGGACTTTGCTTTCTCTCCTCTGCCACCAGGGCAGACATTCATCTCAATACCAAACTGCATCAAGCCTACCTCTTTGTTCATTTGTGTGTTCACTCAGCTAACCAGCATTTATCAAACACCTGCTGATTACACACACGGCCCTGGGCTACATGGCTACAGGGATATTCTCCATGAGCTCAAGGCATGGTAAGGAAT
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Task1_train_560
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Gene CDC42 (cell division cycle 42), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Inborn genetic diseases
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTACACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTGCACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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Task1_train_561
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Chromosome 1 houses a mutation in gene CDC42 (cell division cycle 42). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTACACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTGCACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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Task1_train_562
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An alteration has been detected in CDC42 (cell division cycle 42) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Neurodevelopmental disorder
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTACACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAAAAGGAGATATAAAAGGAAGTTGAATAAAGAAGGATAAATATGGCTGGCTGCGGTGGCTCATGCATGTAATCCCAGCACTCTGGGACTTTGGGAGGCCGAGGTGAGTGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGTAACAGTGAGACCCGTCTCTTAAAAAAACAAAAACCAAACAAAAACCCAGCCGGGCATGGTGGCATGCGTCTGTGGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCCTGGGTGACGGGAGTAAAACCCTGTCTAAAAAAAAGAAAAATATACTGCAGATAATTTTGATGAGGAGCGGGAGAGTGTATATTTCATGTGAGTTACTCACACTAATGTAGTTTCATGTTCTTTTGTTTCGTGATTTTTGCATCCAATCAACAACTCACAGTGTGTCAGTCTAGAAGTGCTCAGTGCTAGAAGTATAGTGGTGCATGAGGTAGTATAGGTTCATTTACAGGGATGTTAATAGGCATTTATAAATTGTTATGATTAATTGTTGTGAATGGTGCTATAGGAGCATGGTGGCATCTGACCAAGAGTTAGGTGGTTCTGTATTTTTATGTTTAATTATAACCCCTTTAGGATTATAATTTAAATTAATTTAAATATAAATCTTAAAATTTAGGTACATATTGGGTGGTGTTTCTTTTTATTCTTTCAGAAAACTGTTAAAGTATTTCATTGAATCTAAGATTCCAATTTCATAGAAGTCAAAATGTGGGGGAAAAATGGCTGATAATGATTCTAAGAGACTCAAAGATACATTCTGACTTTAGAGATGTTAACATGAAAAAAAGCATCTCAAATTAATGACTCTTTGGTACTTGTAATTGATAGCTTCTTAAAATGGAGGAGGACTCTAGTAAGAGAAGCTATAGTATCTGTTTATAAGTCAGTATGCTTTAGAGCAATCTGACTTTTTCATTATAAAAATGTAGGTTTTGGACTAGGCATTCTGGTGCTAAAACAGCTGCTGAGGCCAGCGATCACCCTGTTCTTTGTTCAGTTCCTCACGTTACTCATATAATTACCGTGTGATCGTGTGGTGCTCTGCTGCTTGTTGGTCAGAGCCTGAGTAAGGCTGAATAAGGCTGGATCATGAACCATTCTTTAAAGCAGTGGCCTTTGTATTGCAGTCTAGTTGACATACATGCATACATACAGGTGTGTGTGCACGTGTAACTGAAGAACAGCTTTCACAAAATAATATTTAGCACACTGTGGAATTTTCTCTGATACAGCCTCTTCTCTTTCATGATAAAAATAAATTCGCTGATTATCACACCACTTTGGACCTTTTAAAAATAACACTTAAGAAGTTGGAATAGCCAGGGATCAGAAACTTAGAAATGGACCTTATTTGTTATTGTAACTTATAGCAAGTCATTGTGTCTCTTATTGGGTTCTTTTAGCCATAATAATTGTGCTAGTTCTTTTCTTGCTCTGAGTGCCTGAACCTGTTGCTAAGTGAGGAAGAAAAATCCATATGTAAGTATAAATAAACAAATGTCTTTAATCTTTTTGCAGGTCATCATCAGATTTGAAATATTTAAAGTGGATACAAAACTATTTCAGCAATGCAGACAATTAAGTGTGTTGTTGTGGGCGATGGTGCTGTTGGTAAAACATGTCTCCTGATATCCTGCACAACAAACAAATTTCCATCGGAATATGTACCGACTGTAAGTATAAAGGCTTCCTTCTGTTAGTAAAATGTTGTAAAATTTGATATCCTTTTGAAAACGCTTTCTCTATGTGTACTGAATTTTTTTCTGTTGTCTGCCTTTGTTTCCTGTTTTTAAAGATCTTGACTTCTCATGGGTAAATTATATACACTTTAAACAGCTGAAAAATCAGTGGAAAGTCAGAAGGGGTGACACAGGGTTTGCAAGAAGTGCTGGGAGGCAAAACTCCAGTAGACAAGATTCTAACGAGTGGTGGTCTCAATTTGGTGAAGTATGCCCTACATCTTGGAATGAGGTGACTTTTTTTTTTTTTTTTTTGATATTTTGGCCAATTATTGATCAGTACTTGGAGGTCTCCTGGGATACCATTTGAGGTCCTGTAACTTGAGAGAAAGTAGTATGTGTCTCCACTTTTCTTGTGGAGCTGTTCGCTTAGCAGTAATGGAGCTCCAAACTGGTTCTTAGGGGCAGAGAAGAGAAGACCTGTTATGTTTCGAGAACACCAACAGAGTCCTTTGGGGGTCACTCCCACAACTGTTCTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTATCGTCCATTCTATCTGGAGTGCAGTAGCGCGATCTCGGCTTGCTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTTTCTAATTTTTGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCCATAACTGTTTTTTAAATCAACTCTTTGGAATGGTAGAAGGAAGATGGGAATAACAAAAATATTGAAGTGAGAGAGAGACAAGAGTTAGAGTAACACTCATTTGTGAAAGGTAGTGAGACCCTGTCTCAAAAATAAGGAAAGTTTTTTTTTTGAAGGGGGGAGAATTTGAAGGTATTATTAAACACTAAAATCATATTGATATTTTGAATTGGCTCATTTGGAGACAAGATAAATGGAAGACGTTTTGAGGTTCAGTGGACTTACAGGGGACATTTAGAGGTACATGAATCTTGTTTCAGAGTGAGGACAGCTATCAGAATTTTTCTGTTTCAGTCTCCATTGAAGTTATTTACTTGTAAACATAATTTCTGAGTCTTTTATGACTTTGATCTTCTGGTGTTATATTTTAAGTGGGCTTGTGGGTGTTTTATATGTATGTTTGTGTTGTACATCTCTGGAAAAGTGATAGAGTGGAAGGAAGAGTAGTAGTAGAATAAAATTTTAAATGAACCGATTTAGGTAAATGAATGGACCATGAGGCACAAGTAATGTTCTCATGGTACCTGTTGAAGTTAATATGGAAATGGATTTGGTGTAGAATGCATTTAAGTTCCCATCTATGAGTTGGGGCTTGCCATTTCTAGAGTAATAGAAATTCAGAGCTGGATGGGACAATATATATTGTCTTACCCATCTCTTAATGGATGAGGGTACTCAGGCCCAATTTAGGGATGAGACTTAGAAGTCTAAGTTTAATTACTTAGCGTAATTACACTAGCATAAGTAGACTTTGGAATGGAAGCCAGCTTTTCTGATTCTTAGTCTAGTTTTGGATATGAACAATCTAGTAAAGGAGGGTTGTTTTTGAGTCTCTTAAGTGTGATTTAAGAAAATAATCTGTTTGGTTTGAGAGCTTAACCACATTCATTCAATTTCTTTGTTCCTGTTTTTAAGAACCGACTTTCCTTTAACTGTCATCTCCCTCATGCCCTTGCTTCTCTTCTTTACATTTAAATAAGCTCTGGAACAATCTGTTAAAACATAAGTCAGAAAATCAGAGTAGGTACCTAAAAGTTAAGTAGGGCTGGTCTTAAAATGTGGCATTCTTCTCCTAGTTGGAAAGCTTTGCTTTTCTTTTTATAGATATCATTTA
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Task1_train_563
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This variant impacts the gene CDC42 (cell division cycle 42) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAA
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TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACGGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAA
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Task1_train_564
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This sequence variant lies in CDC42 (cell division cycle 42) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Inborn genetic diseases
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TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAA
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TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACGGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAA
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Task1_train_565
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Here’s a variant in CDC42 (cell division cycle 42) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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ATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAAGTTAGAAAATGGGGTCTGTGGTTGTGTTTGGGAGCTAGAACTTTGAGGCTT
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ATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGGTCTAACATTTAGACCTTTTATCCATTTTGAGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTCCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAAGTTAGAAAATGGGGTCTGTGGTTGTGTTTGGGAGCTAGAACTTTGAGGCTT
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Task1_train_566
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With a mutation on Chromosome 1 in gene CDC42 (cell division cycle 42), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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AGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAAGTTAGAAAATGGGGTCTGTGGTTGTGTTTGGGAGCTAGAACTTTGAGGCTTACAGATTCTGTTTGTTGATTCCTCTAAAACTAAAGTCTTAATATAAACAGATGGTGGTCAAGCAAAGATTAGTTTTGTTTCATAGAGCATTTGTTGATCTTCGTCCATGGTAAGCAAGAAAGGAATTCCTTCTTGTTAAGGGATACACTCCAGTTTCTAATAGTCCTCCTCCTCTTTTTTTCCTTATAAAGTATATTTCCCTTTCTGTACTCCTTCCTTCCTTTTATATTTTACTGCCAGAGTTGGTTCCTAGATGTGCAGAAAGAATTGCAGTGGAATTTTAACTTTTATGTGGCATTTCTACTTTGTAAATGATGTAGAAAGAGGAAGGCTTTTTAACTTTTGCTGC
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AGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGAAGGTGGAGGCAGGAGAGTCTCTTGAACTGGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAGAAAAATCATTTGCCCACATATGTAAGGGTTTATTTCTGGGTTCTCTAGTCTATTCCATTGTCTTATATATCTCCCTATGCCAATACCGCACTGTTTTGATTATTGTAGCCTTGTAGTAAGTTTTGAAATCAGGAAATGGGAGTGCTTCAGCTTTATTCTTTTTCAAGATTATTTTGTCTATTGTCCCTTGTTTCAAGATTACTATCCCTTGTTGGGATTTTGATAGGGATTGCATTGAGTCTGTAGGTTGCTTTGGATAATGTTGACATGTCAACAATATTAAGTCTTCCAGTTCATGAATGTGGGATGTGTTTCCATTTATTTATGTCTTCTTTAATTTCTTTCAGCAGTTTTGAATTTTTTTGTTATCCAAGTCTTTTGCCTCTGATTAAGTTAATTCTAAGTATTTTTATTATTTTGAGTATCGATTAATTCTTGCTAAATTTGTTTTCTAGGCTTTATCAGTTTCAGATACCGGTCTTATATACACGCATTAACTAAATATGTGAACCTCTGTTTGTAGTCATGATGGGCAGTGGATTTTGTCATCTGGGTTTCAGTGAGGTTTTTCTTTCCTTAGATGATTTCACTGTGATTGTTTCTTTACCATATCTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTACAGTGATGCCATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCACGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGAGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAAGGATTGATTTTTAACCATTTCTGTAGCAAGAGTTTATTATTACATTTATTATTGGGTTTCTAATGGACACAAAGATTGAACACCACAAACTGGTAATAAAAGCAAATAACATAATAGTAAATTCATTGCTGTTCTGAGTGCTTGAAGTTTGTAGAATTAGCTGATTGAGAATATTGCCCACATATTATATTACAAAGCCATACATTTTATTAGATAAGTAAGTTGCTTTTTGAGTAATGACCAGCATGCTTTTAACACTTTGAGGACACCAAGATTCAGTTGCTGAATTCTCTCCAATATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACGTGAAAGAAAAGGTAAGCTGATCAGATACTCTTGCCCTAAGAAGATCATCTCAGAATTTCTACTGACCTGTTATAAATAGCATTAGAGGCTTGTTGATTAACAAAGGTGTATTTTAAAATACCTTTTTTTAGTGGGTGCCTGAGATAACTCACCACTGTCCAAAGACTCCTTTCTTGCTTGTTGGGACTCAAATTGATCTCAGAGATGACCCCTCTACTATTGAGAAACTTGCCAAGAACAAACAGAAGCCTATCACTCCAGAGACTGCTGAAAAGCTGGCCCGTGACCTGAAGGCTGTCAAGTATGTGGAGTGTTCTGTACTTACACAGGTAAGAATGGCATGAAACCCCATGTGTATTTATGGTCGAGTCATTTATTAGAGCATTAGGATACAGGAGTTATTTCTAACAGTGATCAGCAGTGCTCAAAGATGCCCAGCAAGAATATGAACAGCTTCATATTGTATGTTCTTTTGTTAGAGGCCTCTGTGTTTTTTGGAGAATATTATTAGTTCCTAAACCCCTTGTGTTGGTAAGCTCTCGTATTGTACTGAATGATTCGTAGTGGTCAGGGTTGTGTTAAAACAAAAACCTTACAGGAAAGGTTCAGATAAGCATAAACTTGCAAGAGACGATGTGAATGATTTTTTTTTTTTCTAAACACTTAAATTTTCATCTGAATATGTCTGATCTTTTCTTGCCAATTCTGACAATTGATACTATACTGTTTCTTGGGCAATTCAACCAGGATAGGGAATTAGTCATAATAATTGAGACTTTAATGTCAAAGAAGGCAGCCATGGCTATTTCTGCCACAGTTCTCAAGCGTGCTTTATATAGTGTCCCTATTCCTATATTTTTGGAAGTATTCCTTCCTCATGCATTCCGGCCGTTTTTGAGTGATTTAATTGGAACTCCTTTTGTAGTTTGATGGGAAACTCAGATTTTGAAGATAGGGAGCAATGTTAGGGTATTTGGAATGGGACTTGTAACTGATGTGTATGGTTTAAACTTTTTCACCTTCATGATATCGCTGATTCCGTCCTTTGAGTACTGTTCTGGGGGCAAAGGAAAAGGTTATGGAAATAATTAGCACAAAAGTTTTATGTTCTACTGGTACTGGTGCTTTGAAGTTTGAACACTGAGCAGACATGCCTAATAGGGCAAGATTGAAGGGTGGAGGTTTCTAATAATTATATTAAACTCATTATATTTATGCTTATGTTTTCAGGTAATTCATTCATTTTTATTGTGTTTCTAAAAAACACTATTGGATTCTTAACTACGTGTATACTAGGGTAAATGGCATATATGATTACTTATTACATATGCACTAGGTATTTAGTTTATAGGGCCTAGTGCATAATTTAATAGTAAGTTTAGTACTTGGTTGGATATTTACAGATAAAACTTTTATGCTTAACTGGGATATCCCTCAAAATAACTTCGAGGCCTAGTATCAGATGATTTAAACATAATCTTCTAATCCTCGTTTTTTTGGGCAGTTTAGTGCTATTATAGAAGCAGTTATTTAAAAGTTTAGAAGATTTTACACCTTCTCATGCATAGCAACTGTTTTGAGAGTTTTAAAAAATGCCTGGTGCTTCTCTGTGTGTTTTAGTAACATTCCCAGAAAAGTGTGCCTGTGTGTGTATATTGGGGGAGACAAGGGAAAGTCATGTGTGAAACACTCATGTCCATGTTAGACACTAATTCTGTGTGCTTCTGATGCATACCTCTGTTCTCTAGATATGGGTTGCTTTGAGGGAAGACACATAGGCCCTGTGGATTCACTTTTAGGTTACTAGTGATGCTTTAGATAATTGGATGCTTTTAATGTAAGATTTTTACAGTATCAACAGGTGTATATAGTAAATCCGTTTGTAGAGAGTATGAAGTTTAAAAGGTCTTAGCAGGTACATTTTTCTTACCAGAGTTTGAAGTATGGAGAAGTCAAAAGAGGGGAAGTTAGAAAATGGGGTCTGTGGTTGTGTTTGGGAGCTAGAACTTTGAGGCTTACAGATTCTGTTTGTTGATTCCTCTAAAACTAAAGTCTTAATATAAACAGATGGTGGTCAAGCAAAGATTAGTTTTGTTTCATAGAGCATTTGTTGATCTTCGTCCATGGTAAGCAAGAAAGGAATTCCTTCTTGTTAAGGGATACACTCCAGTTTCTAATAGTCCTCCTCCTCTTTTTTTCCTTATAAAGTATATTTCCCTTTCTGTACTCCTTCCTTCCTTTTATATTTTACTGCCAGAGTTGGTTCCTAGATGTGCAGAAAGAATTGCAGTGGAATTTTAACTTTTATGTGGCATTTCTACTTTGTAAATGATGTAGAAAGAGGAAGGCTTTTTAACTTTTGCTGC
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Task1_train_567
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This variant affects the gene CDC42 (cell division cycle 42) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Noonan-like syndrome
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CTTGCTCTAATAACATTGCTGAATAACTGAAGTGTATGCTGTTTTTAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCCGCAGGTGTGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTT
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CTTGCTCTAATAACATTGCTGAATAACTGAAGTGTATGCTGTTTTTAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACAAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCCGCAGGTGTGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTT
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Task1_train_568
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A mutation in CDC42 (cell division cycle 42), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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TAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCCGCAGGTGTGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTTAGGACATTATACTGATCTGCATGAGAATCTTAGAAACTAAGAACC
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TAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCTGCAGGTGTGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTTAGGACATTATACTGATCTGCATGAGAATCTTAGAAACTAAGAACC
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Task1_train_569
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A variant was discovered on Chromosome 1, affecting CDC42 (cell division cycle 42). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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TGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCCGCAGGTGTGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTTAGGACATTATACTGATCTGCATGAGAATCTTAGAAACTAAGAACCCTTAAAA
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TGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTATCTACTCTCCTGGTTATAATGGGCTTAAGATCTAGCATTCTAGCGTTTTTCTTAAGGCACATTGCTTCTGTGAATTCAGCTCATTTAATCCGGACTGCTGTTGTACCTGCTAGTCTTTCTAATCCTCTAACCTGGCTGCTATTCTCTCTCCTCCCCTCTGTCTTGTAGAGAGGTCTGAAGAATGTGTTTGATGAGGCTATCCTAGCTGCCCTCGAGCCTCCGGAAACTCAACCCAAAAGGAAGTGCTGTATATTCTAAACTGTTTTCTCCTTCCCTTCTTTGCTGCTGCTTCCTGTCCCACTACTGTAGAAAGATCGTTTAAAAACAAAGGAATAAAACCATCCTGTTTGAAAGCCTCTGCGTCTTTTTACTCACCACCTTAGAGCAACCTCTGTATTAGTTTTTGATCAAGAATGCAATATCATATAAATTTTTTGTGATCAGTAGTCAAGTTGGACTTGTTTTAACGTTCTGCTGCTTGAGTTGCCTGATGCTCAGAGCTTTTTGGTTTGGATTACTATTGCAAAAGGGAACTTGGTCTGGCTTTAAGAATGTCCTCTTGGAGAAAATAACAAGAGTTTTAACACTTCTAGATCTTAGTTCTAGATGGAGAAAGTAACACAAACATCATTTTACTCTTATGATCAATTGTTAATTGTAATTGCATGACAAACCTTATGGAAAAGGGGTGACCTAGTAGAGTGTAATGGGGAAGGGAGGATTCTTTTCTGGTTTTCCTTTGTGCGGTGAAACTTTGTGTTGCTGTTGCTTTGGCTGTCTGTGCTGTAGTGGAGTATTTGTCAGTCTGGGGTGGGGAAGATATTGATGTATCTGCTACTGCTTTATGAGTTCATTTGTTACATTATCTTTTAAGAATAACATCCATTTAAACAGTTGACTTACAGTTTGTTAATGCTGAGATGTAAAGCTGCCACCTTTATATTTTCCTGCTTCTGATTTTATTGTGAGGGAAATATACAATTGTGGTTACCTTCAAATTTTGAAATTAAAAATATACAACCGTTTGTATAAATGCCTGATGAAGCTTTATTCCTGTTGCACTGACTGGCTCTAATTTTACGTATGTATCAGGTACCCACATTTTTGCTCCCTTGAATCTCCTTGACTCTGTCTAACTGGTGGGATAAAGGGAGTTCAAAGTGACTATCTTTGCAGCTACCATAATCACCCTCTCTCTCTCTTTGCCTGTGCCTTCCATAGAATAAGGATGCCACTGACCCGTGCCCGTCCTCTCAGTCCTCTGTTTCATATCCAGCTGTTTCATTTGAATGCAGAGCTGCTTCCCTTGTTTTTATGTAAAATGTTTCAGCAGCACATTACAAAACTCATACTGAATGAGCAAATGACACATGTGCTTGTTTGCTTCTTGTGACATACATTGGTCTGCGCAAAGCTTTCTCAAAGGACCACTGTCTCACTCATGAATATCTGCTCCTCTGCTCCTGAATTGCTGAATCCTTCCAGTGCCCTGGACAAATCTTGGTGAAGTGAGATTATTGTGTTGAGATTCAGGGTTGTTTTTAATGTTTCTTTCTTTGCCAACTCTTGGGGGTTTGAATGTTTTAAATTTGAACTCCAACTTTATTATACTGAAAATCAGACCGCCCATTTTTTCTTTCTACCCCTTTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAGAACCGAAGAAGAGCCGCAGGTATGTGCTGCTATGAACATCTCTCCAGAGCCCTTTCTGCACAGCTGGTGTCGGCATCATACTAAAAGCAATGTTTAAATCAAACTAAAGATTAAAAATTAAAATTCGTTTTTGCAATAATGACAAATGCCCTGCACCTACCCACATGCACTCGTGTGAGACAAGGCCCATAGGTATGGCCCCCCCCTTCCCCCTCCCAGTACTAGTTAATTTTGAGTAATTGTATTGTCAGAAAAGTGATTAGTACTATTTTTTTTTGTTGTTTCAAAAAAAAAATTTTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTTTTGTTGTTTAAAAGCAAGGCATGCTTGTGGATGACTCTGTAACAGACTAATTGGAATTGTTGAAGCTGCTCCCTGGTTCCACTCTGGAGAGTAATCTGGGACATCTTAGTGTTTTGTTTTGTTTTTTTCCCTCCTCTTTTTTTTGGGGGGGAGTGTGTGTGGGGTTTGTTTTTTAGTCTTGTTTTTTTAATTCATTAACCAGTGGTTAGCCCTTAAGGGGAGGAGGACGGATTGATTCCACATTCCACTTCCTAGATCTAGTTTAGAAAACATGTTCCCCATCTGGTGCTCTTAGGAAGGAGTATAGTAAATGCCTCATTTAATAACATACTCCTTTTTGAAAGTTGCCTTTTCTCTCCACCCTTGAGTAGATCCAGTATTTGATGAAACTCATGAAAGTGGGTGGAGCCCATCTTGCCCCTCCTCTTTTCTAGGACGCACTATATGTGACTGTGACTTTCAAGGACATTTGTTTGCCATTTGCTGATTTTTTTGGGAAGTTAATTTCTAACTTCTTTCACTGATAAATGAAGAAAAGTATTGCACCTTTGAAATGCACCAAATGAATTGAGTTTGTAATTAAAAAAATTTTTTTCCCTTTCAGTCATTGTCTTATATGCTTAGCATAGATTTGCAGCTCAGTAGTATATGGTGTTCCTAGAATGCAGCTGAAGACCTGTTATGTAGAGGAAATACGAGGGGTGGTGCTAGAAGACAGACATCTGTGGAATGATTCACATCCTCTCAAGTTAGGAGGATGGAGGCCTGCTTCATTAAGAAGCTGGGGGTAGGGTGGGGGTGGGGAGAACACTTAACAACATGGGGACCAGTCAGGGGAATCCCCTTATTTCTGTTTTGCATATGAGGAACCCTAGAGCAGCCAGGTGAGGCTCTCTAGTTTAATAAAAATCATGGAAAGACTCTTAATGCAGACTCTTCTTAAGTGTTAATAGGGATTTTTTCAGCTTATTTTGGTTGCAGTTTCCAATTTTTAAAAATGTTGAGGTAATCTTTCCCACCTTCCCAAACCTAATTCTTGTAGATGCATTAGTGTTGAACCAATGCTTTCTCATGTCTCAATTCTTTGTATATGCATTCTTTTCAGATGTATTAAACAAACAAAAACCCTTCACAAGCCAGCCTGAGGGTTGTTATTTTCCCTCCGTCTCTTACTTTTCAGATATTGAGGAGTGGGAATTTGACTCTTGATAACATCAATTTCTAACAAACTTTGGGATAAAATTTTAAAGCTTTATTATTTTTATTTTCTGGCATTTTAGTTTGAGATAATATTTAGCCCTCTATATGTTCAGGTTTGTGCTTTCTCCTCTAAGTTTGACCCTTCCCTTAAATACCAAGTAGGTCCATAATAATTCTTAGTGAAGCAGTGTTCAGGAAGCTCACTGCTCATGGTGGAAGGAAATGTCAGTGTACCTTTAATCCATAGATCATTGAAAAGCAGCTCATTTTCCCCCAAGTTTTCTGCATCAGTGGTTCTCCAACTGGAGTGCAGCTTGAACAATGTGATTTTTAAGTTTTCCAGGCATTTCTAAAATGTAGCCAAGTTTGGGAATCACCACACCTAGTTGGTTATCTCAAACTACTACTATCAGAATACAGGTTCTGTGCTGCGAATCTGAATATGGGATACATTTTCTTTAGGTAGCAAGAAAGGTTTATTTACCTTTAGGACATTATACTGATCTGCATGAGAATCTTAGAAACTAAGAACCCTTAAAA
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Task1_train_570
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This is a variant in WNT4 (Wnt family member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Mullerian aplasia and hyperandrogenism
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TGGGTCAAGGGCAAGGTCTTGATCCATGCATGTCCTTCTCACAAGCCTGGGCGGGGCTCGTGATGGTTTGGCGGTTGTACAGGGTCAGGCCCAGGTTGCTGGTGCTGTCTCTTGGGAAATCTTGCAGTACCTATGGTACCTGGGACCCCAGGGACTCGGATGTGCTGGGGAGGGGTGCACCACACTGCTGAGACCTCACTGTCAGCCTTCCAGCTGTTCACATCTTTCCTCAGAGCCTGTTCTGCCCTTAGGAACCATGTGGGCTCCAGCTCAGCCTGTGGTCTCTGGCTCCTGCTGCTTCCCTGCCCCTTTTCGTCCAGCCAGAACCCCTGCCCCAGGCTCAGACCCAAGAAGACCTGCAGTTTCTCTACCTTTGGGTACAAGAACCAAGGAGGAGGCTTGGCTGGAGGACTCTTCTGGCCCTGCCTGTCCATCCAGCTTGCTGTGAGAGGTCTGGGGAGCACTGCCGTCTCTGATGTCAGATGGGCATTAGCATTCTTGGTTTGTCTGCTTCCCAGGACTGTTGTGGCCATCAAGTGAGATGGCCTGTACAGGGCCTAGAACACGTAGTATTTGCTCAATAAATTGTGTTGAGTAAGATAATGGGAGAGGACTTTATTGCACAGCCCTTTCCTCCCTCCCTCTCGCAGGTGTGTGTGTGTGTGTTTTCCTTTTTCAGTTTCATGGAGGAACAGTGCTGTGAAAGGTGACTCAGGGGCATGACTGCAAAGGCACAGCCCTTTCCTCCCTCTCTCTCGCAGGTGTGTGTGTGTGTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAGTTTCATGGAGGAACAGCGCTGTGAAAGGTGACTCGGGCATGACTGCAAAGGCACAGCCGGGATCCCTGGTCCAGGATGGCAGCCTATATGCCTGCCTAGGTGGGTCTGGGGAGTGGTTAAGTTTCCTCTTCCCAGGGGCAGGCTGGGGCAGGCTGGGTTCTAGGGTGGGACTTCAGTCGTCTCTTGCTCTCATCTCCCTCTTCTTGCCTGGAAGGACCCACAGATATCGAACCTCTAGCTGTCCATGTAAGGGCTGAAATGAACCTGGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAAGGTCCCTTTGGTCAGTGGCAGCCACAAAGGCCCAGGCTTTGGGGAGGCCCTGGTTGGTGCCCTTGGGGTTGCCTGCCTGGTTTCGGCAATAAATAACATGAGGACCCAAAAACCAAACCAGAACAAAAAATACAACCAGTATCTCTTGGGGTAGGTGGTGGGAGACTGTTTAAATTATCGGCCTTCCCTGGGCCACTAGGTGGTTGCCGGCGCAGGGCTAGGCAGGCGGTCATCGGCACGTGTGCAACTCCACGAGCCGCTGGCACTGCCGGCACTTGACGAAGCAGCACCAGTGGAATTTGCAGCTGCAGCGTTCAGCCAGCTCCACCTGCGCCGTGTGGAAGCCGCGGCCACAGCACAGCAGCTCACAGCCGTCGATGGCCTTGGACGTCTTGTTGCATGTGCGGCCCCTCGTGCCCAGCACGCCGCTGCGCATGTCCTGCTCACAGAAGTCGGGGCTAGGCTCCAAGTACACCAGGTCCTCATCTGTGTGCGGCTTGAACTGTGCGTTGCGTGGCACCAGTGCCCTGGAGGAGCCCACGCGGCGTGGCTCCACCTCAGTGGCACCATCAAACTTCTCCTTCAGTGCGTGACCCACCTGGCGGAAGGGCGGCACGGCTCGCCAGCACGTCTTTACCTCACAGGAGCCTGACACCCCGTGGCACTTGCATTCCACCCGCATGTGTGTCAGGATGGCCTGTGGGAGAGGGTGGGGGAGAGGGGCCATCAGGAGATGGCAAGGGAAGGCAGGGGAGGGCCGCGGAGGCTGACAGCCGAGCATCGGGGTCCCTGGGGCTGACGCTGCAGTCAGATTTGCCGTTGTGCCTCCTCTTAGGAATTACGCGGTACTGGGCTGCTAAGCAGTGTTGTGACAGGTGAACGAGGTACTGTCCCTGCACTTGGGGCACTGGGAGTTGAAGAAAGAGAAGCACTAAGGGTGGTGTCCTATCAACAGTGAGTGACAGGTGTGGGGTGGGGAGAACACTGCTGCATTTAACCTCCACGGGAACCTTGGGGAGTAGGCATCCAGAAGGCAGGTGGCATTACAGTTAGGCACATGATCTTCGTGGTGATGGAGAGAAAGGTTCACATCTAGCTCTGCTGCTCTTTTGGGGAATGAGTGTGTGTGAGAGACAGGGATGGACACATATATGTATGTGTGTGGGGGGGCCATATGTATGGAGGGGGCCACTTACCCCATTCTGTAACGCCTGCCTGCCTGTCTGTACCCCCCTCTGGCCTGTCCTGAACCCCACTGGCCTACAGAAGGTGCCAGGTGCTGGTGAGAGCCTGCACAAATGTTTTCTGAGTGGCCGTGTGGGTGGGAGAGTCTGGGGCCCTGCCCATGCTATCCCTACCCCGCTCTTGGTGGGGGGTAGTGCCACACTACCTTCCTGCCGGCCTCATTGTTGTGGAGGTTCATGAGGGCTCTGCTGGACGAGGCCCCCTTGCTTCTCTCCCGCACATCCACAAACGACTGTGAGAAGGCCACACCGTAGGCGATGTTGTCAGAGCATCCTGACCACTGGAAGCCTGGGGTGTGGTGGGCACAGAAAGGGCTGCGGTGAGTGAGGGCCAGGGCCAAGCCCCCTGCCCTCCCACTCTGACCACCTCCTGCACCTACCCTGTGGGCTGACCCCATGCACTGTCCTGTCACAGCCGCACTTCTCCAGCTCCCCACTGCTGCACGCCCGCGTCACTGCAAAGGCCACACCTGCCGAAGAGATGGCGTACACGAAGGCCGCCTCCCGAGTCCCTGTGGGAGGCAGAGGGAGGGCAGAGCTGGGTCCCAGGGCTCCTCCCTGCACCCTCCTTTGTAGAGGGGGAGGGGCATATGGAGCCTCCTGCTTGCTGGAGGCCAGGAGGGAGCAAGACAGGCAGAAATCATGTGCTAGGCACCCCACGGCGCTTGTTCTTATCACACCAATAGCTGAATCTGCTTCCTTTACCAGGCGTGGCTTAGGGCTTTTCAAACGTGCAGATGCTGTCATCCTCACAACCACCCCAGGAGGCAAGTACTGTTACCATCTCCATTTAAACAGAGGCTCGGGGGCTTTTCCGAGGTCACTGAGCCAGCAGACAGTCTGGCTTCAGAGCTTGTGTTCCCAGCTCCTGTGGGAAGCCGTTCTCACTACCCCCACCAGAAGGTTCGTGAAGGTTTATGGAAGACCAGACAGGCTGGGAGAGGTGAACTGGCTTGCCAAGGCTGCAGGTAGAAAGAAGGCCTGGACTATAAACTCAGGTCTGGCCTGTTCCCCAGCTGGCCCCACTGGGCTCTGAGGAGTTGCCCTTCCTTATGTATGATCTTGCCCCTTCCTCTGAGACTGGGCCTGTTTCTGAAAATGTCTTGCTTCCTTAGAGTAAACCGTAATAACAACAGCTTCTACGTAACCCCCAACCCCTACTGTGGCTAATTAGGAGATACCTATTATGCATAAGCCCTCCACCACTGGGGGCTTCATTGTCCCCCATTTTATAGACGGAGAAATGGAGGATCAGCCGGGGAAGGGATTTGGTCCCAGTCACCCAGCCAGAGAGCCATGGAACCAAGACTCAAGCACACGTCTGTCTGCCTCTGCCTCATGACTTCTCAGTGGTTCTATTTTGGTGCCCGCCCTCGTCCCTCGCCTGAATGGATGTTTTTATCCTCCTAAGAACTGTGCCTCGGGGGTGTAGCTGTTGTGGA
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TGGGTCAAGGGCAAGGTCTTGATCCATGCATGTCCTTCTCACAAGCCTGGGCGGGGCTCGTGATGGTTTGGCGGTTGTACAGGGTCAGGCCCAGGTTGCTGGTGCTGTCTCTTGGGAAATCTTGCAGTACCTATGGTACCTGGGACCCCAGGGACTCGGATGTGCTGGGGAGGGGTGCACCACACTGCTGAGACCTCACTGTCAGCCTTCCAGCTGTTCACATCTTTCCTCAGAGCCTGTTCTGCCCTTAGGAACCATGTGGGCTCCAGCTCAGCCTGTGGTCTCTGGCTCCTGCTGCTTCCCTGCCCCTTTTCGTCCAGCCAGAACCCCTGCCCCAGGCTCAGACCCAAGAAGACCTGCAGTTTCTCTACCTTTGGGTACAAGAACCAAGGAGGAGGCTTGGCTGGAGGACTCTTCTGGCCCTGCCTGTCCATCCAGCTTGCTGTGAGAGGTCTGGGGAGCACTGCCGTCTCTGATGTCAGATGGGCATTAGCATTCTTGGTTTGTCTGCTTCCCAGGACTGTTGTGGCCATCAAGTGAGATGGCCTGTACAGGGCCTAGAACACGTAGTATTTGCTCAATAAATTGTGTTGAGTAAGATAATGGGAGAGGACTTTATTGCACAGCCCTTTCCTCCCTCCCTCTCGCAGGTGTGTGTGTGTGTGTTTTCCTTTTTCAGTTTCATGGAGGAACAGTGCTGTGAAAGGTGACTCAGGGGCATGACTGCAAAGGCACAGCCCTTTCCTCCCTCTCTCTCGCAGGTGTGTGTGTGTGTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAGTTTCATGGAGGAACAGCGCTGTGAAAGGTGACTCGGGCATGACTGCAAAGGCACAGCCGGGATCCCTGGTCCAGGATGGCAGCCTATATGCCTGCCTAGGTGGGTCTGGGGAGTGGTTAAGTTTCCTCTTCCCAGGGGCAGGCTGGGGCAGGCTGGGTTCTAGGGTGGGACTTCAGTCGTCTCTTGCTCTCATCTCCCTCTTCTTGCCTGGAAGGACCCACAGATATCGAACCTCTAGCTGTCCATGTAAGGGCTGAAATGAACCTGGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAAGGTCCCTTTGGTCAGTGGCAGCCACAAAGGCCCAGGCTTTGGGGAGGCCCTGGTTGGTGCCCTTGGGGTTGCCTGCCTGGTTTCGGCAATAAATAACATGAGGACCCAAAAACCAAACCAGAACAAAAAATACAACCAGTATCTCTTGGGGTAGGTGGTGGGAGACTGTTTAAATTATCGGCCTTCCCTGGGCCACTAGGTGGTTGCCGGCGCAGGGCTAGGCAGGCGGTCATCGGCACGTGTGCAACTCCACGAGCCGCTGGCACTGCCGGCACTTGACGAAGCAGCACCAGTGGAATTTGCAGCTGCAGCGTTCAGCCAGCTCCACCTGCGCCGTGTGGAAGCCGCGGCCACAGCACAGCAGCTCACAGCCGTCGATGGCCTTGGACGTCTTGTTGCATGTGCGGCCCCTCGTGCCCAGCACGCCGCTGCGCATGTCCTGCTCACAGAAGTCGGGGCTAGGCTCCAAGTACACCAGGTCCTCATCTGTGTGCGGCTTGAACTGTGCGTTGCGTGGCACCAGTGCCCTGGAGGAGCCCACGCGGCGTGGCTCCACCTCAGTGGCACCATCAAACTTCTCCTTCAGTGCGTGACCCACCTGGCGGAAGGGCGGCACGGCTCGCCAGCACGTCTTTACCCCACAGGAGCCTGACACCCCGTGGCACTTGCATTCCACCCGCATGTGTGTCAGGATGGCCTGTGGGAGAGGGTGGGGGAGAGGGGCCATCAGGAGATGGCAAGGGAAGGCAGGGGAGGGCCGCGGAGGCTGACAGCCGAGCATCGGGGTCCCTGGGGCTGACGCTGCAGTCAGATTTGCCGTTGTGCCTCCTCTTAGGAATTACGCGGTACTGGGCTGCTAAGCAGTGTTGTGACAGGTGAACGAGGTACTGTCCCTGCACTTGGGGCACTGGGAGTTGAAGAAAGAGAAGCACTAAGGGTGGTGTCCTATCAACAGTGAGTGACAGGTGTGGGGTGGGGAGAACACTGCTGCATTTAACCTCCACGGGAACCTTGGGGAGTAGGCATCCAGAAGGCAGGTGGCATTACAGTTAGGCACATGATCTTCGTGGTGATGGAGAGAAAGGTTCACATCTAGCTCTGCTGCTCTTTTGGGGAATGAGTGTGTGTGAGAGACAGGGATGGACACATATATGTATGTGTGTGGGGGGGCCATATGTATGGAGGGGGCCACTTACCCCATTCTGTAACGCCTGCCTGCCTGTCTGTACCCCCCTCTGGCCTGTCCTGAACCCCACTGGCCTACAGAAGGTGCCAGGTGCTGGTGAGAGCCTGCACAAATGTTTTCTGAGTGGCCGTGTGGGTGGGAGAGTCTGGGGCCCTGCCCATGCTATCCCTACCCCGCTCTTGGTGGGGGGTAGTGCCACACTACCTTCCTGCCGGCCTCATTGTTGTGGAGGTTCATGAGGGCTCTGCTGGACGAGGCCCCCTTGCTTCTCTCCCGCACATCCACAAACGACTGTGAGAAGGCCACACCGTAGGCGATGTTGTCAGAGCATCCTGACCACTGGAAGCCTGGGGTGTGGTGGGCACAGAAAGGGCTGCGGTGAGTGAGGGCCAGGGCCAAGCCCCCTGCCCTCCCACTCTGACCACCTCCTGCACCTACCCTGTGGGCTGACCCCATGCACTGTCCTGTCACAGCCGCACTTCTCCAGCTCCCCACTGCTGCACGCCCGCGTCACTGCAAAGGCCACACCTGCCGAAGAGATGGCGTACACGAAGGCCGCCTCCCGAGTCCCTGTGGGAGGCAGAGGGAGGGCAGAGCTGGGTCCCAGGGCTCCTCCCTGCACCCTCCTTTGTAGAGGGGGAGGGGCATATGGAGCCTCCTGCTTGCTGGAGGCCAGGAGGGAGCAAGACAGGCAGAAATCATGTGCTAGGCACCCCACGGCGCTTGTTCTTATCACACCAATAGCTGAATCTGCTTCCTTTACCAGGCGTGGCTTAGGGCTTTTCAAACGTGCAGATGCTGTCATCCTCACAACCACCCCAGGAGGCAAGTACTGTTACCATCTCCATTTAAACAGAGGCTCGGGGGCTTTTCCGAGGTCACTGAGCCAGCAGACAGTCTGGCTTCAGAGCTTGTGTTCCCAGCTCCTGTGGGAAGCCGTTCTCACTACCCCCACCAGAAGGTTCGTGAAGGTTTATGGAAGACCAGACAGGCTGGGAGAGGTGAACTGGCTTGCCAAGGCTGCAGGTAGAAAGAAGGCCTGGACTATAAACTCAGGTCTGGCCTGTTCCCCAGCTGGCCCCACTGGGCTCTGAGGAGTTGCCCTTCCTTATGTATGATCTTGCCCCTTCCTCTGAGACTGGGCCTGTTTCTGAAAATGTCTTGCTTCCTTAGAGTAAACCGTAATAACAACAGCTTCTACGTAACCCCCAACCCCTACTGTGGCTAATTAGGAGATACCTATTATGCATAAGCCCTCCACCACTGGGGGCTTCATTGTCCCCCATTTTATAGACGGAGAAATGGAGGATCAGCCGGGGAAGGGATTTGGTCCCAGTCACCCAGCCAGAGAGCCATGGAACCAAGACTCAAGCACACGTCTGTCTGCCTCTGCCTCATGACTTCTCAGTGGTTCTATTTTGGTGCCCGCCCTCGTCCCTCGCCTGAATGGATGTTTTTATCCTCCTAAGAACTGTGCCTCGGGGGTGTAGCTGTTGTGGA
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Task1_train_571
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Consider a variant on Chromosome 1 in gene WNT4 (Wnt family member 4). Determine its clinical classification and disease relevance.
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Pathogenic; SERKAL syndrome
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GGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAAGGTCCCTTTGGTCAGTGGCAGCCACAAAGGCCCAGGCTTTGGGGAGGCCCTGGTTGGTGCCCTTGGGGTTGCCTGCCTGGTTTCGGCAATAAATAACATGAGGACCCAAAAACCAAACCAGAACAAAAAATACAACCAGTATCTCTTGGGGTAGGTGGTGGGAGACTGTTTAAATTATCGGCCTTCCCTGGGCCACTAGGTGGTTGCCGGCGCAGGGCTAGGCAGGCGGTCATCGGCACGTGTGCAACTCCACGAGCCGCTGGCACTGCCGGCACTTGACGAAGCAGCACCAGTGGAATTTGCAGCTGCAGCGTTCAGCCAGCTCCACCTGCGCCGTGTGGAAGCCGCGGCCACAGCACAGCAGCTCACAGCCGTCGATGGCCTTGGACGTCTTGTTGCATGTGCGGCCCCTCGTGCCCAGCACGCCGCTGCGCATGTCCTGCTCACAGAAGTCGGGGCTAGGCTCCAAGTACACCAGGTCCTCATCTGTGTGCGGCTTGAACTGTGCGTTGCGTGGCACCAGTGCCCTGGAGGAGCCCACGCGGCGTGGCTCCACCTCAGTGGCACCATCAAACTTCTCCTTCAGTGCGTGACCCACCTGGCGGAAGGGCGGCACGGCTCGCCAGCACGTCTTTACCTCACAGGAGCCTGACACCCCGTGGCACTTGCATTCCACCCGCATGTGTGTCAGGATGGCCTGTGGGAGAGGGTGGGGGAGAGGGGCCATCAGGAGATGGCAAGGGAAGGCAGGGGAGGGCCGCGGAGGCTGACAGCCGAGCATCGGGGTCCCTGGGGCTGACGCTGCAGTCAGATTTGCCGTTGTGCCTCCTCTTAGGAATTACGCGGTACTGGGCTGCTAAGCAGTGTTGTGACAGGTGAACGAGGTACTGTCCCTGCACTTGGGGCACTGGGAGTTGAAGAAAGAGAAGCACTAAGGGTGGTGTCCTATCAACAGTGAGTGACAGGTGTGGGGTGGGGAGAACACTGCTGCATTTAACCTCCACGGGAACCTTGGGGAGTAGGCATCCAGAAGGCAGGTGGCATTACAGTTAGGCACATGATCTTCGTGGTGATGGAGAGAAAGGTTCACATCTAGCTCTGCTGCTCTTTTGGGGAATGAGTGTGTGTGAGAGACAGGGATGGACACATATATGTATGTGTGTGGGGGGGCCATATGTATGGAGGGGGCCACTTACCCCATTCTGTAACGCCTGCCTGCCTGTCTGTACCCCCCTCTGGCCTGTCCTGAACCCCACTGGCCTACAGAAGGTGCCAGGTGCTGGTGAGAGCCTGCACAAATGTTTTCTGAGTGGCCGTGTGGGTGGGAGAGTCTGGGGCCCTGCCCATGCTATCCCTACCCCGCTCTTGGTGGGGGGTAGTGCCACACTACCTTCCTGCCGGCCTCATTGTTGTGGAGGTTCATGAGGGCTCTGCTGGACGAGGCCCCCTTGCTTCTCTCCCGCACATCCACAAACGACTGTGAGAAGGCCACACCGTAGGCGATGTTGTCAGAGCATCCTGACCACTGGAAGCCTGGGGTGTGGTGGGCACAGAAAGGGCTGCGGTGAGTGAGGGCCAGGGCCAAGCCCCCTGCCCTCCCACTCTGACCACCTCCTGCACCTACCCTGTGGGCTGACCCCATGCACTGTCCTGTCACAGCCGCACTTCTCCAGCTCCCCACTGCTGCACGCCCGCGTCACTGCAAAGGCCACACCTGCCGAAGAGATGGCGTACACGAAGGCCGCCTCCCGAGTCCCTGTGGGAGGCAGAGGGAGGGCAGAGCTGGGTCCCAGGGCTCCTCCCTGCACCCTCCTTTGTAGAGGGGGAGGGGCATATGGAGCCTCCTGCTTGCTGGAGGCCAGGAGGGAGCAAGACAGGCAGAAATCATGTGCTAGGCACCCCACGGCGCTTGTTCTTATCACACCAATAGCTGAATCTGCTTCCTTTACCAGGCGTGGCTTAGGGCTTTTCAAACGTGCAGATGCTGTCATCCTCACAACCACCCCAGGAGGCAAGTACTGTTACCATCTCCATTTAAACAGAGGCTCGGGGGCTTTTCCGAGGTCACTGAGCCAGCAGACAGTCTGGCTTCAGAGCTTGTGTTCCCAGCTCCTGTGGGAAGCCGTTCTCACTACCCCCACCAGAAGGTTCGTGAAGGTTTATGGAAGACCAGACAGGCTGGGAGAGGTGAACTGGCTTGCCAAGGCTGCAGGTAGAAAGAAGGCCTGGACTATAAACTCAGGTCTGGCCTGTTCCCCAGCTGGCCCCACTGGGCTCTGAGGAGTTGCCCTTCCTTATGTATGATCTTGCCCCTTCCTCTGAGACTGGGCCTGTTTCTGAAAATGTCTTGCTTCCTTAGAGTAAACCGTAATAACAACAGCTTCTACGTAACCCCCAACCCCTACTGTGGCTAATTAGGAGATACCTATTATGCATAAGCCCTCCACCACTGGGGGCTTCATTGTCCCCCATTTTATAGACGGAGAAATGGAGGATCAGCCGGGGAAGGGATTTGGTCCCAGTCACCCAGCCAGAGAGCCATGGAACCAAGACTCAAGCACACGTCTGTCTGCCTCTGCCTCATGACTTCTCAGTGGTTCTATTTTGGTGCCCGCCCTCGTCCCTCGCCTGAATGGATGTTTTTATCCTCCTAAGAACTGTGCCTCGGGGGTGTAGCTGTTGTGGACTCTCTTTCTGGAGGTGGGGGGCAGTGTGTGAGCTGGAGTATGCATGGCCGGCTGGGTGTGTGACCAGACAGCAGACCATGCTCCCCTCCTGGGCCCTGTGAGGAGGGCCTCTGTACGCTGTGACTGTCCTTCTGTCTCTTGCCTGAGTGTCTGTGTCCGCAGGAGCGGAGGGGGCAGGCTTTGGCCCCATGGTTGGCAATTACCTCTGTGACATCCAGGCCTGTGCTCTCGGCTGCCCCAGGGAGCAGTCACCGTGGTCAGATGGAAACAATCACCTTCTCTGTGCCCCTGTCTGTGGACAGAGGCAGTAGAGGCTGAGCACTGGGGTGGGAGGCAGCTCAGTCCCCGACCACTCAGGACGCCCTGTTCTTGGTTCGGCCCTTGAGCTGGCGATAGTGCCCACCACCCACTCTCCACTGCCCACTCTCCACCCTGGCTTGGCCATTTTGGGTCAGCACTGGGGGGCTTGGCTGGAGCAATGGCGCCTCGACAGCCTGAGACAGAGTCTTCTCCGAGTTAATCGAGGTTAATAGCAGGATCATGTTGGTTGGTTTTATGCTGTGGCCGCCCAAAGAGAGACGACTTCAGTTTCTGGTATTTCTGGTATTTCCAGGCCTGAACCAGCACAAATCTTTGCCCCAAAGACCAAGGGGGAAGGGAAGTCAAAGCAGGAGACGGGGCTGGCTGATGAGACTGGCGGGTCGCCTCAGCCTGGCCTCGCGTGGTCCTTCCTCCTCTGCTGGTCTTGGCTCCCAGGCCACCCCGGCCCAACCCAAGCCCCAGGCTGATCTCCCCTGTGTACTGGTGGTCCCTGGGGTGCAGGGCCACCAGGGAGGTTGCTCAGAGAGACCTCTGCCTCATTCCCCAAACCAACATTCATCCACCGAGACTCCAGGTTCATTTTGCCCTGGCTTTGGGAACAAGAACACTGGAGTTTTCTCAGCTCGGGAGTGGTCCTGAAGGAAGAGATTCTGGAAGGAAGATAATAATAACGAGCTAAAGCTTACAGACAGCTTACCATGTGCTGGGCTCTGTCTAAGGACTTCACATGTGTTATATACTTGTCCCAACAACCCTATGAAGTAGATA
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GGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAAGGTCCCTTTGGTCAGTGGCAGCCACAAAGGCCCAGGCTTTGGGGAGGCCCTGGTTGGTGCCCTTGGGGTTGCCTGCCTGGTTTCGGCAATAAATAACATGAGGACCCAAAAACCAAACCAGAACAAAAAATACAACCAGTATCTCTTGGGGTAGGTGGTGGGAGACTGTTTAAATTATCGGCCTTCCCTGGGCCACTAGGTGGTTGCCGGCGCAGGGCTAGGCAGGCGGTCATCGGCACGTGTGCAACTCCACGAGCCGCTGGCACTGCCGGCACTTGACGAAGCAGCACCAGTGGAATTTGCAGCTGCAGCGTTCAGCCAGCTCCACCTGCGCCGTGTGGAAGCCGCGGCCACAGCACAGCAGCTCACAGCCGTCGATGGCCTTGGACGTCTTGTTGCATGTGCGGCCCCTCGTGCCCAGCACGCCGCTGCGCATGTCCTGCTCACAGAAGTCGGGGCTAGGCTCCAAGTACACCAGGTCCTCATCTGTGTGCGGCTTGAACTGTGCGTTGCGTGGCACCAGTGCCCTGGAGGAGCCCACGCGGCGTGGCTCCACCTCAGTGGCACCATCAAACTTCTCCTTCAGTGCGTGACCCACCTGGCGGAAGGGCGGCACGGCTCGCCAGCACGTCTTTACCTCACAGGAGCCTGACACCCCGTGGCACTTGCATTCCACCCGCATGTGTGTCAGGATGGCCTGTGGGAGAGGGTGGGGGAGAGGGGCCATCAGGAGATGGCAAGGGAAGGCAGGGGAGGGCCGCGGAGGCTGACAGCCGAGCATCGGGGTCCCTGGGGCTGACGCTGCAGTCAGATTTGCCGTTGTGCCTCCTCTTAGGAATTACGCGGTACTGGGCTGCTAAGCAGTGTTGTGACAGGTGAACGAGGTACTGTCCCTGCACTTGGGGCACTGGGAGTTGAAGAAAGAGAAGCACTAAGGGTGGTGTCCTATCAACAGTGAGTGACAGGTGTGGGGTGGGGAGAACACTGCTGCATTTAACCTCCACGGGAACCTTGGGGAGTAGGCATCCAGAAGGCAGGTGGCATTACAGTTAGGCACATGATCTTCGTGGTGATGGAGAGAAAGGTTCACATCTAGCTCTGCTGCTCTTTTGGGGAATGAGTGTGTGTGAGAGACAGGGATGGACACATATATGTATGTGTGTGGGGGGGCCATATGTATGGAGGGGGCCACTTACCCCATTCTGTAACGCCTGCCTGCCTGTCTGTACCCCCCTCTGGCCTGTCCTGAACCCCACTGGCCTACAGAAGGTGCCAGGTGCTGGTGAGAGCCTGCACAAATGTTTTCTGAGTGGCCGTGTGGGTGGGAGAGTCTGGGGCCCTGCCCATGCTATCCCTACCCCGCTCTTGGTGGGGGGTAGTGCCACACTACCTTCCTGCCGGCCTCATTGTTGTGGAGGTTCATGAGGGCTCTGCTGGACGAGGCCCCCTTGCTTCTCTCCCGCACATCCACAAACGACTGTGAGAAGGCCACACCGTAGGCGATGTTGTCAGAGCATCCTGACCACTGGAAGCCTGGGGTGTGGTGGGCACAGAAAGGGCTGCGGTGAGTGAGGGCCAGGGCCAAGCCCCCTGCCCTCCCACTCTGACCACCTCCTGCACCTACCCTGTGGGCTGACCCCATGCACTGTCCTGTCACAGCCGCACTTCTCCAGCTCCCCACTGCTGCACGCCCGCGTCACTGCAAAGGCCACACCTGCCGAAGAGATGACGTACACGAAGGCCGCCTCCCGAGTCCCTGTGGGAGGCAGAGGGAGGGCAGAGCTGGGTCCCAGGGCTCCTCCCTGCACCCTCCTTTGTAGAGGGGGAGGGGCATATGGAGCCTCCTGCTTGCTGGAGGCCAGGAGGGAGCAAGACAGGCAGAAATCATGTGCTAGGCACCCCACGGCGCTTGTTCTTATCACACCAATAGCTGAATCTGCTTCCTTTACCAGGCGTGGCTTAGGGCTTTTCAAACGTGCAGATGCTGTCATCCTCACAACCACCCCAGGAGGCAAGTACTGTTACCATCTCCATTTAAACAGAGGCTCGGGGGCTTTTCCGAGGTCACTGAGCCAGCAGACAGTCTGGCTTCAGAGCTTGTGTTCCCAGCTCCTGTGGGAAGCCGTTCTCACTACCCCCACCAGAAGGTTCGTGAAGGTTTATGGAAGACCAGACAGGCTGGGAGAGGTGAACTGGCTTGCCAAGGCTGCAGGTAGAAAGAAGGCCTGGACTATAAACTCAGGTCTGGCCTGTTCCCCAGCTGGCCCCACTGGGCTCTGAGGAGTTGCCCTTCCTTATGTATGATCTTGCCCCTTCCTCTGAGACTGGGCCTGTTTCTGAAAATGTCTTGCTTCCTTAGAGTAAACCGTAATAACAACAGCTTCTACGTAACCCCCAACCCCTACTGTGGCTAATTAGGAGATACCTATTATGCATAAGCCCTCCACCACTGGGGGCTTCATTGTCCCCCATTTTATAGACGGAGAAATGGAGGATCAGCCGGGGAAGGGATTTGGTCCCAGTCACCCAGCCAGAGAGCCATGGAACCAAGACTCAAGCACACGTCTGTCTGCCTCTGCCTCATGACTTCTCAGTGGTTCTATTTTGGTGCCCGCCCTCGTCCCTCGCCTGAATGGATGTTTTTATCCTCCTAAGAACTGTGCCTCGGGGGTGTAGCTGTTGTGGACTCTCTTTCTGGAGGTGGGGGGCAGTGTGTGAGCTGGAGTATGCATGGCCGGCTGGGTGTGTGACCAGACAGCAGACCATGCTCCCCTCCTGGGCCCTGTGAGGAGGGCCTCTGTACGCTGTGACTGTCCTTCTGTCTCTTGCCTGAGTGTCTGTGTCCGCAGGAGCGGAGGGGGCAGGCTTTGGCCCCATGGTTGGCAATTACCTCTGTGACATCCAGGCCTGTGCTCTCGGCTGCCCCAGGGAGCAGTCACCGTGGTCAGATGGAAACAATCACCTTCTCTGTGCCCCTGTCTGTGGACAGAGGCAGTAGAGGCTGAGCACTGGGGTGGGAGGCAGCTCAGTCCCCGACCACTCAGGACGCCCTGTTCTTGGTTCGGCCCTTGAGCTGGCGATAGTGCCCACCACCCACTCTCCACTGCCCACTCTCCACCCTGGCTTGGCCATTTTGGGTCAGCACTGGGGGGCTTGGCTGGAGCAATGGCGCCTCGACAGCCTGAGACAGAGTCTTCTCCGAGTTAATCGAGGTTAATAGCAGGATCATGTTGGTTGGTTTTATGCTGTGGCCGCCCAAAGAGAGACGACTTCAGTTTCTGGTATTTCTGGTATTTCCAGGCCTGAACCAGCACAAATCTTTGCCCCAAAGACCAAGGGGGAAGGGAAGTCAAAGCAGGAGACGGGGCTGGCTGATGAGACTGGCGGGTCGCCTCAGCCTGGCCTCGCGTGGTCCTTCCTCCTCTGCTGGTCTTGGCTCCCAGGCCACCCCGGCCCAACCCAAGCCCCAGGCTGATCTCCCCTGTGTACTGGTGGTCCCTGGGGTGCAGGGCCACCAGGGAGGTTGCTCAGAGAGACCTCTGCCTCATTCCCCAAACCAACATTCATCCACCGAGACTCCAGGTTCATTTTGCCCTGGCTTTGGGAACAAGAACACTGGAGTTTTCTCAGCTCGGGAGTGGTCCTGAAGGAAGAGATTCTGGAAGGAAGATAATAATAACGAGCTAAAGCTTACAGACAGCTTACCATGTGCTGGGCTCTGTCTAAGGACTTCACATGTGTTATATACTTGTCCCAACAACCCTATGAAGTAGATA
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Task1_train_572
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Mutation context: Chromosome 1, Gene WNT4 (Wnt family member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Mullerian aplasia and hyperandrogenism
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GTGTCTATATATAGAAATAGAGAATAACAAAGCAAATGGGTGAAAATGTAAGCTGTTGGTGAATCAAGTGAAAAGGATATAGGAATTACTTGTCCTACTTTTGCAACTCTTCTGTAAGTTTGAAATTATGATTTTAAAAAAATCCCACAGCAAGAACAAAGAGCTTTGGAGCCCAGAGGGAAGAGCTGAGAAGGTGTCGTGGAGGAGGGAACTGCTGAGCCCTCAAGAAGGGGGCTTGGGTGTTTGCGGTGGAGGACATTGCATATGCAAAGGGAGGAGTGAGAGAGGGTGACAGCCTGCCATATGAAACCCTGCCAATCTATCCACCAATCTGTCCAATACACACCTACTGTGTCCAAGGGCTTCCCAGGCTCATGGGCTGCTGTTTGAGGCTGTTTCTGGGGCTCCATCAACCAGGCAGCCCTGTTATCCTGGGAGATCCTCCACTGCCAGGCTGCTCACTGGGTCTCTGTTGCTTTTCCAGAGCAGCGATGTTCAGCAATGCCAAGCGAGATCATGCCTTTTTGGCCCCTGCCAGCTCTTAGGAGAATGACTTCCAAATTTCTATCACAGTTGGTTTCTAGCAACATCCAAATGGTTTGCTACAAGCCCAGCAGCCCCGGCCGTCCAGGACCACAGGTGTCAGGAGAAGGGTTGGCCCAGGCAACCCCTTCCTGCTGCCTGAACAAGTCAAAGGGCCTTGTCGATGGATAGTGGCTCGGAAGTGCCAGTTTCATGCTCAGGAAGTAGAAAAAGGGGCCCATGGTTTAGAGTACTTCCTTGAGGGCGGGAGCTTGGCCGGCGACCTCTGGAGGAGACTTCCAGTTCCATAGACCGTTCTCTATGCCCTGGTCCCCCTGTCTTTGGCTTAATGCCATCTCACATTTCTGGTCTCAGCTGAGGACCAATCTCCTCGGAAAAGCCTTCCCTGAGCATCCCAGCCCCAGCCAGGGGTGGTGTCCACCCTGTGCTTCCACAGGCTCCCCTGGCCCATTGATCACAGCGTCTCCTCATCGAGGATAAGACCACAGACCTGGGAGCGGGACGGCCTGGGGTTGAGTCCCGGCTCTACCACTTTCTACTTTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTACCCAGGATGGTGTCGATCTCCTGACCTCATGATCCGCCCGCCTGGGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCTGCCGCGCCCAGCTGGCTCTGCCACTTTCTAGTTCTGTGACCTTGGGCAAGTTACTTAACCTCCATGTGCCTGTTTCTGTGCATCCCTGTATCTCAGGGCTGGCTATGCTGGAGGTGCACAATAGGGTTGTTCAGGTGTACCAAGGAATGGGATGGGCCCAGATACTGGAGGCCAAGTGCTGGGGTGGGAAGAGCAGCGGGCCAGGGGTCCAGAGCCTCGGGTCTGAGCCCTGACTGCTTCTCTTCCTCTGAGGAACCTTGGGCAAGTCAGTGGTGTCCCCTGCCTGAGCCTCAGTTTCTTCCTTAATTACCTGCTTACGCTTCCAGGAGGCCAGCAGTGGAAACACGGTGCTCTTTTGAGTGCTGCCTCAACACAGAGCTGCCGCCTCTTCTGATGGCCCCCATCCCACACATACATCCCACCTGGATCATCCTCCTGTCCTGGGGCCCCCAACGCTCTGCATCCTTTATGCCCTCACTTGGGTCCTGTGCTGGTTTTGCTTCAGAAATGACCTGCAATAGTCCCGTTGCTCACGAGCGTCTCATTTCCTGCTGGGCCCATGCCCTGGCACCGCAGGCTCCCCTGCAGCCCCGCACGCCCTTCCCTCACCTTGCGTCACCACCTTGCCGAAGACGGGCAAGGAGTCGAGTGTGGAGCAGTTCCAGCGCCGGTTCCGGAACTGGTACTGGCACTCCTCAATGGCCAGCTGGGCACCGCGGCGCACCGAGTCCATGACTTCCAGGTTCCGCTTGCACATCTGCACCTGCCTCTGGATCAGGCCCTTGAGTTTCTCGCACGTCTCCTCCTCTGAGATGCTCCCCACCGACGACAGCTTGGCCAGGTACCTGGGGAGAGGGTGACACGTGATGCAGAGCCCACCTCCTCATCTTTCCTGGCCCCGGACCAGGCCTGAGCTCCAGCCCGGGTCTCTGGGAACTGACTCGTCCCAGTGACTGGGCCTGGCTGCCGACTTCTCTCTGGATCCAGTTACAGGCCCTCTTGCCCGGCTCTAGGGGCACCAAGGGAGTGGAAATGCTGTCTTCTGCAAAAAGCCTCTATCTCAAGTTCAGCAAAGCAGGTGGCAGCAGTGGGAGGGAAGCTCATCGAGCCCCTACGGGATCCCTCCCTGCCCTGGCAGCCCCCGTGCCACTGTCTGTGCCAGGACGTCACCCCAGACCTGGCTATGGGATCCCACTGTTCCCTGCCGAGATGCCTTCTAGCTAGGAGGCTGGAGCCGCTGTCTGCCCAGGGTCTCTCTTCCCTGTCCTAGGCAGGAACCCCAGTGATCCTTGGCTGATCTTCTGGCCACAAGACCAAGATCCTCACTGCCAGCCACATCCTAGGACCACCAGATGGAGACCAGTGTCATTGCTGCCACCCTTTGGAGGTGGGACAATGAGGGCAGTGATGGGCTAGAGGTCTAGGGATGGTCAGGTTATGGGTGGTGGTGGCGAGAGTGGGCTGTGTGGACGCTTCAAAAGCCAAGTGCAGCATGCTCTCCCTCCCCCAGGGGCTTGCCCAGCACACTGAGTCTCCCAAGGGTTGGGGATTTTCTAGGGGTTGGCTGTGAAGAAGCTGTTGCATCTTATAAAGGAAGCTGCACAAATTTCTTGTTGAAGAAGGATAAAGGGAAGGTAACTGCTCTTTGGGCCTCAGTTTCCTCATCTGTAGTAAGAGAAGGGAACACCGGTTCTGTCTGAGTGGAGGAACTGCTACCTGGAGCAAGAGGGATCTGTGTGAGAGATGGCCTGACACTGGCCCGAGGCAATGAGGCAGGAAGTCGCCATTTGTTTGCTGAATGAGGGAATGAATGAATGGTGACCAAATAGAAAAGCACACAGAAAGTCCTACTTATGGGAATTCTTTCTGATGATAAGAAGAAACTTATGGAAGTTCCATCAAACTTCTATGGAACTTGGGACTGGGCTAAGTACTTTACATTATTGCGTTTAATCCTCTCAGAAAGCCAACCAGCTGCCATTTAAAAGAGGAGGAAACTGAGGCACAGACATTTTAAGTAATTTACCTCATGTGCAGGGCTACACAGCCAGTGAGGTTGAGCAGGACTTGAACCTGGCATTTGCCTGGCTTCACAGCCTTGGGCAGAGACAGTATTCTCTGTGTGGCTCAAAGACTAGAATTGACACTGTGGCCAGAAGCTGCTGGGAGCTGGGTTTGTTCAACCCAAAGATGCTAGCCAGGGTGCAGCTGGGGAGCTGTCTCCCCATCCCTGGAGGTTTGCAGGCGGCAGCTAAATTTTATTTGTCAGGTATGTGGGTTGGACCAAGTGACGGTTCTTGAATCTGGCTGTGCATCGAAACGTGTGCAGGGTTTGTTGAAGGTGGAGGTGCCTGGGCCCCAGTCCCAGTGGGGGTTGGTGGGCCTCTGAGGTTAATTGAATGTGCCTTAGGTGCACCTGGGAGGCTAGGTGGGCACTGGCCTGGAGAACAGTCTGCATAAGTATGGGTAATGTTTCCTTCTCAGCCATAGGGAGCTCTGACTCAGGGATGCCACTGTCCTCCTCACTGTGGCATTGATCCCCAGGATGTTTCCTTTTCCCCGTGGCTGTGGAGCCTGAGCCTGGCTTTCCTTATCTGTAAATGGAGATAACGGTTCTCACCCAGAGGGCTGCCAAGAGGAATGCCCGTGATTTGCTGTGTGATGCACCTGGCTGTCAGCTGGGCACATTCTAGGTGCCAGGTAATTGTGGGGGCAAGTGTACA
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GTGTCTATATATAGAAATAGAGAATAACAAAGCAAATGGGTGAAAATGTAAGCTGTTGGTGAATCAAGTGAAAAGGATATAGGAATTACTTGTCCTACTTTTGCAACTCTTCTGTAAGTTTGAAATTATGATTTTAAAAAAATCCCACAGCAAGAACAAAGAGCTTTGGAGCCCAGAGGGAAGAGCTGAGAAGGTGTCGTGGAGGAGGGAACTGCTGAGCCCTCAAGAAGGGGGCTTGGGTGTTTGCGGTGGAGGACATTGCATATGCAAAGGGAGGAGTGAGAGAGGGTGACAGCCTGCCATATGAAACCCTGCCAATCTATCCACCAATCTGTCCAATACACACCTACTGTGTCCAAGGGCTTCCCAGGCTCATGGGCTGCTGTTTGAGGCTGTTTCTGGGGCTCCATCAACCAGGCAGCCCTGTTATCCTGGGAGATCCTCCACTGCCAGGCTGCTCACTGGGTCTCTGTTGCTTTTCCAGAGCAGCGATGTTCAGCAATGCCAAGCGAGATCATGCCTTTTTGGCCCCTGCCAGCTCTTAGGAGAATGACTTCCAAATTTCTATCACAGTTGGTTTCTAGCAACATCCAAATGGTTTGCTACAAGCCCAGCAGCCCCGGCCGTCCAGGACCACAGGTGTCAGGAGAAGGGTTGGCCCAGGCAACCCCTTCCTGCTGCCTGAACAAGTCAAAGGGCCTTGTCGATGGATAGTGGCTCGGAAGTGCCAGTTTCATGCTCAGGAAGTAGAAAAAGGGGCCCATGGTTTAGAGTACTTCCTTGAGGGCGGGAGCTTGGCCGGCGACCTCTGGAGGAGACTTCCAGTTCCATAGACCGTTCTCTATGCCCTGGTCCCCCTGTCTTTGGCTTAATGCCATCTCACATTTCTGGTCTCAGCTGAGGACCAATCTCCTCGGAAAAGCCTTCCCTGAGCATCCCAGCCCCAGCCAGGGGTGGTGTCCACCCTGTGCTTCCACAGGCTCCCCTGGCCCATTGATCACAGCGTCTCCTCATCGAGGATAAGACCACAGACCTGGGAGCGGGACGGCCTGGGGTTGAGTCCCGGCTCTACCACTTTCTACTTTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTACCCAGGATGGTGTCGATCTCCTGACCTCATGATCCGCCCGCCTGGGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCTGCCGCGCCCAGCTGGCTCTGCCACTTTCTAGTTCTGTGACCTTGGGCAAGTTACTTAACCTCCATGTGCCTGTTTCTGTGCATCCCTGTATCTCAGGGCTGGCTATGCTGGAGGTGCACAATAGGGTTGTTCAGGTGTACCAAGGAATGGGATGGGCCCAGATACTGGAGGCCAAGTGCTGGGGTGGGAAGAGCAGCGGGCCAGGGGTCCAGAGCCTCGGGTCTGAGCCCTGACTGCTTCTCTTCCTCTGAGGAACCTTGGGCAAGTCAGTGGTGTCCCCTGCCTGAGCCTCAGTTTCTTCCTTAATTACCTGCTTACGCTTCCAGGAGGCCAGCAGTGGAAACACGGTGCTCTTTTGAGTGCTGCCTCAACACAGAGCTGCCGCCTCTTCTGATGGCCCCCATCCCACACATACATCCCACCTGGATCATCCTCCTGTCCTGGGGCCCCCAACGCTCTGCATCCTTTATGCCCTCACTTGGGTCCTGTGCTGGTTTTGCTTCAGAAATGACCTGCAATAGTCCCGTTGCTCACGAGCGTCTCATTTCCTGCTGGGCCCATGCCCTGGCACCGCAGGCTCCCCTGCAGCCCCGCACGCCCTTCCCTCACCTTGCGTCACCACCTTGCCGAAGACGGGCAAGGAGTCGAGTGTGGAGCAGTTCCAGCGCCGGTTCCAGAACTGGTACTGGCACTCCTCAATGGCCAGCTGGGCACCGCGGCGCACCGAGTCCATGACTTCCAGGTTCCGCTTGCACATCTGCACCTGCCTCTGGATCAGGCCCTTGAGTTTCTCGCACGTCTCCTCCTCTGAGATGCTCCCCACCGACGACAGCTTGGCCAGGTACCTGGGGAGAGGGTGACACGTGATGCAGAGCCCACCTCCTCATCTTTCCTGGCCCCGGACCAGGCCTGAGCTCCAGCCCGGGTCTCTGGGAACTGACTCGTCCCAGTGACTGGGCCTGGCTGCCGACTTCTCTCTGGATCCAGTTACAGGCCCTCTTGCCCGGCTCTAGGGGCACCAAGGGAGTGGAAATGCTGTCTTCTGCAAAAAGCCTCTATCTCAAGTTCAGCAAAGCAGGTGGCAGCAGTGGGAGGGAAGCTCATCGAGCCCCTACGGGATCCCTCCCTGCCCTGGCAGCCCCCGTGCCACTGTCTGTGCCAGGACGTCACCCCAGACCTGGCTATGGGATCCCACTGTTCCCTGCCGAGATGCCTTCTAGCTAGGAGGCTGGAGCCGCTGTCTGCCCAGGGTCTCTCTTCCCTGTCCTAGGCAGGAACCCCAGTGATCCTTGGCTGATCTTCTGGCCACAAGACCAAGATCCTCACTGCCAGCCACATCCTAGGACCACCAGATGGAGACCAGTGTCATTGCTGCCACCCTTTGGAGGTGGGACAATGAGGGCAGTGATGGGCTAGAGGTCTAGGGATGGTCAGGTTATGGGTGGTGGTGGCGAGAGTGGGCTGTGTGGACGCTTCAAAAGCCAAGTGCAGCATGCTCTCCCTCCCCCAGGGGCTTGCCCAGCACACTGAGTCTCCCAAGGGTTGGGGATTTTCTAGGGGTTGGCTGTGAAGAAGCTGTTGCATCTTATAAAGGAAGCTGCACAAATTTCTTGTTGAAGAAGGATAAAGGGAAGGTAACTGCTCTTTGGGCCTCAGTTTCCTCATCTGTAGTAAGAGAAGGGAACACCGGTTCTGTCTGAGTGGAGGAACTGCTACCTGGAGCAAGAGGGATCTGTGTGAGAGATGGCCTGACACTGGCCCGAGGCAATGAGGCAGGAAGTCGCCATTTGTTTGCTGAATGAGGGAATGAATGAATGGTGACCAAATAGAAAAGCACACAGAAAGTCCTACTTATGGGAATTCTTTCTGATGATAAGAAGAAACTTATGGAAGTTCCATCAAACTTCTATGGAACTTGGGACTGGGCTAAGTACTTTACATTATTGCGTTTAATCCTCTCAGAAAGCCAACCAGCTGCCATTTAAAAGAGGAGGAAACTGAGGCACAGACATTTTAAGTAATTTACCTCATGTGCAGGGCTACACAGCCAGTGAGGTTGAGCAGGACTTGAACCTGGCATTTGCCTGGCTTCACAGCCTTGGGCAGAGACAGTATTCTCTGTGTGGCTCAAAGACTAGAATTGACACTGTGGCCAGAAGCTGCTGGGAGCTGGGTTTGTTCAACCCAAAGATGCTAGCCAGGGTGCAGCTGGGGAGCTGTCTCCCCATCCCTGGAGGTTTGCAGGCGGCAGCTAAATTTTATTTGTCAGGTATGTGGGTTGGACCAAGTGACGGTTCTTGAATCTGGCTGTGCATCGAAACGTGTGCAGGGTTTGTTGAAGGTGGAGGTGCCTGGGCCCCAGTCCCAGTGGGGGTTGGTGGGCCTCTGAGGTTAATTGAATGTGCCTTAGGTGCACCTGGGAGGCTAGGTGGGCACTGGCCTGGAGAACAGTCTGCATAAGTATGGGTAATGTTTCCTTCTCAGCCATAGGGAGCTCTGACTCAGGGATGCCACTGTCCTCCTCACTGTGGCATTGATCCCCAGGATGTTTCCTTTTCCCCGTGGCTGTGGAGCCTGAGCCTGGCTTTCCTTATCTGTAAATGGAGATAACGGTTCTCACCCAGAGGGCTGCCAAGAGGAATGCCCGTGATTTGCTGTGTGATGCACCTGGCTGTCAGCTGGGCACATTCTAGGTGCCAGGTAATTGTGGGGGCAAGTGTACA
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Task1_train_573
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The following genetic variant occurs in WNT4 (Wnt family member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Mullerian aplasia and hyperandrogenism
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GCAGAGAACAGGTTTGCCAACCTCTCTTCTCCTAGGCTGCCCCTCCTCACCCCACCCCCAACAGCACAGGCAGGAGAACTGAGTTGTTGGAATTCCCCACAGTTTGCATGATCCAAAGCCGAGGCTGCCTTCCTGGCTGGGATTCTGGGGGTGGACATGGGTGAAGGTGAGTGGTGATGCCACCGGGCCATGCTGGCTCCACTTTGGGACAGCTTCAGGGAAGGGGGTATAGGGTCACTGCCTGGGAGTCAGAACACCTGGGTTCAGTTCTCAGCTCTGAGTTTGGGCAAGTAGCTTCCACTCCCTAGGCCTCAGTTTCCTCATCTGAGTCAAAGATGAGATGTTCCTGAAGGACTTTCCACTGCAGATGTCGCTGTCTTCCATGTAGGCCTGGGCCAGACGCTTGGACTGCCACTTTTTTTTCTTTGTTTTTTGTTTGTTTGTTTGTTTTTTGTGGCTTTGGCGGTGCTGGGCAGGTGAGACACAGTTCTTGCTCCTTCTGATGCTCAGATCTGTTTTGGAGGCCCCCGCTCTGAACCCATGCATTCAAGAACCAGCTCCAGGGACACCCAGGGTCCTCCAAGTCCAAATCAGCTCCCTCCCCAGCTCTGTGACCCAGGCTCCATTCAGGGGGTGGCCTGCAGGGGGGCAGTGGGAGAAGGTGGTGGTGCCTTGCTTTCTGTACACTCTGCCACTGCTCCTGAAGTGTTAATCAAATTAAGGCTCCAAGAAAAACAAAAGCTCCGCAGCCACTTCGGGCTGCCTTGGAGTCGTTTGCTCTCGGAACAGCTGGGAGAATTCCACATCACCTCCGTCCCCCAAGCCCTGGGTGGCTCTGACCCCAACGAACACACTCCTTCCAGCCTGGAGGGCTCTGGCTGGCCACAATGACCTCATAGCAACAGCCATTGGACACTCGGGGCAATTTCATGGGAGATATTTGTTCTTTGGTCTTGATGCAGAGAGAATTTTTTCCTCTCTCCCTGTCTCCATGGAAACCCCAGCTACACTGTTGGCGATCCCCCTTCCCACCCCATGCTTTTCAGATCAATATTGGAGCTTGGCTCCCCACTGGCTGCCCACAGCGGATGGTGGCAGAGCTCTGGGCAGGAGGAACTGGGGCCAGGGTTAAGCGCGGGGCATGGGGAACTGTCCCTGAGCGGGGATGAAAGGAGCGCGGGTCCGCTTGCTCCCTGTCCACCCACTCACTGGAGCTCATCCCTTTAGTCTCCCTCCCTGCAGCAAACCTTCCGCCCCTACCCAGGGAGCGCCCTGAGCGCAGATCCAGTCAAGGAGAAACAGACAGGTCACCAGCGGTTACCACCCCTTCCTCCTTAGGCTAGACACGGGGAGCTGGGGGGCCGTTGTCTTCTTTAAGGTCTGGACGGAGTTTCTTCCTGCCCCGGGGAAAAACCAAGGCCCGGCCAGCGCCAGCGCCAGCCCCGGGCCCTGGGAGACCAGGCGTCCTGGTCCCTTCCTTCTGTCTCCGGCTCCCGCCCCCCAAGCAGAAACAGGTCCCTGCACGCCTCCAGCCCAGCCCGCAGCGCGGCGCAGCTCGGCGCAGCTCGGCGCTGGGAGCTCGCTCCGGACTTCTCGGGATTAACCTGCTATTATGTCCCGGAGCCCTTCCCTGCAATGGGCTTCCTCAGCGACCTGTCAGCCCGGCTGGACTGCAACCCGCGTCCGGCGCCCCTCCCGGGCCACCGCCCCGCGCTCGCACCCCTGGCGCCCTCGAGAGCCCCGAGCCGCCTACCGGTGCGGACGCCGCCACAGCCACCCCTGACGCCTCTGGGCAGGGAGCCGGACCCGGGCAGGAGGGGACCCCGGGTGTGCAGAGGGACGTTCGGGCCGTGGCGGCGGCAGCGGAGCGAGCGAGCCTCCGGTCCCGCGGCCGAGACACCTGCCGGGCTGCCCCGCGCCCGCTGCCCCGCGCCGCCTGGCACCGGCCGCTGCCCCCGGGGCCTGCCCCGCCCCGCCCCGCCCCGCTCGGCCCCGGCCAGACTTACAGCCAGTTGCTCGCGGCGGCTGAGAAGACGGCGAAGACGAGGAGGCGCAGCGAACGCAGGCACGAGCGGGGACTCATGGTGCCGCCGCGGGCGCCCGGCCCGGGGCAGCGGCTGCGGCCGCGGGGGGCCTCCCGTCGGGGCTGCAGGTGGGCGCCCGCGGGCGGGCCGGGGCGCGCGCGGCGGGGCTCTGCCTCCGTGTGCCTGCCGGCAGCCTGCCCGCTGCTGCGCCCGCTGCCCGGCGCGGACCAGACTGTCAGCGCCGCCCCAGAGCCGGGATGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGGCGGGCGGGCGGGCGGCCGGGGGGGCGGGCCGGGGGCGGGCCGAGGATGGGGTTACCTGGGCGGGCCCAGCGGCCCGGGACACCCCCCCGGGGGCGGGCCGGAGCGGCGGCGGCTGCCGCCTTAGCCCGCGGGACTGGGCTGCTCCCGGGGCCTCCCCGGCTGGGCGCTCCGGAGGACTTGGGGCCCGAGCCCGCTCCAGGCACGCCTGGCTGCGCGCCGCCGAGCCCGGCCCGGCTAGAGGCGCGGCGACCCAGCTGCCCGGCCGCCGCCCGGGCCTAGGGGACAGGCGGGCACAGCTCCCCCAACCCGCCGCTGCGGGCACTGCAGCGCGGCCCTCGCTGTCCCCCTACCCCCCCCACCGCCCCCCGCCGGCGCCTGGAGCCCAGACCCCGGTCCGACCGCGGCGGACCCACCGGAGCGCGGCTACCACTCGCGCGCACCCAGGCGCTGGCGCTCCGGGTGCCTGGGGCTGCACATCGGGGCGCTGGATGTCTCCCGACCGCCCCCCGCCCGGCCCCTCCCTGCCTCCTGGCCCCCGCGTCCTGCGGCCCAGCCCCTCCCTGGCGCTCACCTCCCTACAGCCTTCCGGGAGCTGGACGGGGCCTCCCCAGCTTTGGGCAGCTTGGGACAGTGGCCCGAGACTGTGGGAATCCGAAACCTCGCTTCTGGCTAGCCACAAGGTCTGGGCGCGCCCCAGGCAGCAGGGTCTTGACTCTGAGCCTCCGTTTTCTCATCCGGGAAGTGGGCTTAAGACGCTGTGATTGGGAGGACAGGAGGAGTTTAGGGAAGCTCTCTTGGCTCACTCACCAAGTCTTACTTTGCATTTGGTTTTCTATGTGCTTGTTCGATTTATCCTCCCATACTAGGCAGATTCAGCCTCTTGTTTGTTTTGGGCACAGGGCGGTGCCTGCCATGTTTGTGGAAGGAATAAATGAATGGAATGGAATGGGCTGCAACAGCCTGTGCTTGGCTAGTCCAGAGAGCTCAATTCCACATCACTGTAACCCCTAAGAATTGTCTGCCCAAGTCCACGCCACACCCTCTCAGGTCACTGATCTGATTCTGTGTGCTACTCATCCTCCAGGCTGCATCCCCCAGCTGCTCACAGGTAGAGGGACCTCTTATCTAAACAGTAAAACTAAGGCCCGGAAAGGGAGGCACCTGTCCCACCTCCCTAGGGGTTGGGAACAGAGGCAAGGACCAGGTCTATGCCCTCACCCCCTGATCTTAGTTCTTCACTGATTTTGGAGTATGAAGTTTGCTCCCACAGAGGCCATCATGTTTGGGTGCTGGGATGGTGCCCTGGGGTCCCCTGGGCTCAGAACAGAGGAAGGGCTCAGTAAACATTTGGTATTGGGACTGGGTGGAACGTGGCAGGGATTTGTGGGGCTGGGCAAGAGTATAGATGGAGGTTCACATACCATATGTCCAAATATTTGCAGGCTATAAATCAAGCTAACAAAATGCAAAATAAATTATGTTCTATTCTTCTATCTTGACAAATACACTTTCCTAACAAGGCAGAAAGCTGGCTTTGAGTGTGGCATTCTCATACTCCTCAGACCTTGCCCTGGAGCTGGTGGCACAGGGAGAGGGGGCCCCTAGTGCCTGGCCTGGGCCCCTGCCCCCTACCTTTTCCTACCTCTGCCTCTGTCCTGTCCTTCGAGAGTCTTGTGCACATTCATGAACATCTCAGCCTGCACATGCAAGCTCAGCCCCTTGGTAGCCCCTCAGGCTTAGGGCTGGGCACGCCAGTGGTGTACTCTGTCCTCGGG
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GCAGAGAACAGGTTTGCCAACCTCTCTTCTCCTAGGCTGCCCCTCCTCACCCCACCCCCAACAGCACAGGCAGGAGAACTGAGTTGTTGGAATTCCCCACAGTTTGCATGATCCAAAGCCGAGGCTGCCTTCCTGGCTGGGATTCTGGGGGTGGACATGGGTGAAGGTGAGTGGTGATGCCACCGGGCCATGCTGGCTCCACTTTGGGACAGCTTCAGGGAAGGGGGTATAGGGTCACTGCCTGGGAGTCAGAACACCTGGGTTCAGTTCTCAGCTCTGAGTTTGGGCAAGTAGCTTCCACTCCCTAGGCCTCAGTTTCCTCATCTGAGTCAAAGATGAGATGTTCCTGAAGGACTTTCCACTGCAGATGTCGCTGTCTTCCATGTAGGCCTGGGCCAGACGCTTGGACTGCCACTTTTTTTTCTTTGTTTTTTGTTTGTTTGTTTGTTTTTTGTGGCTTTGGCGGTGCTGGGCAGGTGAGACACAGTTCTTGCTCCTTCTGATGCTCAGATCTGTTTTGGAGGCCCCCGCTCTGAACCCATGCATTCAAGAACCAGCTCCAGGGACACCCAGGGTCCTCCAAGTCCAAATCAGCTCCCTCCCCAGCTCTGTGACCCAGGCTCCATTCAGGGGGTGGCCTGCAGGGGGGCAGTGGGAGAAGGTGGTGGTGCCTTGCTTTCTGTACACTCTGCCACTGCTCCTGAAGTGTTAATCAAATTAAGGCTCCAAGAAAAACAAAAGCTCCGCAGCCACTTCGGGCTGCCTTGGAGTCGTTTGCTCTCGGAACAGCTGGGAGAATTCCACATCACCTCCGTCCCCCAAGCCCTGGGTGGCTCTGACCCCAACGAACACACTCCTTCCAGCCTGGAGGGCTCTGGCTGGCCACAATGACCTCATAGCAACAGCCATTGGACACTCGGGGCAATTTCATGGGAGATATTTGTTCTTTGGTCTTGATGCAGAGAGAATTTTTTCCTCTCTCCCTGTCTCCATGGAAACCCCAGCTACACTGTTGGCGATCCCCCTTCCCACCCCATGCTTTTCAGATCAATATTGGAGCTTGGCTCCCCACTGGCTGCCCACAGCGGATGGTGGCAGAGCTCTGGGCAGGAGGAACTGGGGCCAGGGTTAAGCGCGGGGCATGGGGAACTGTCCCTGAGCGGGGATGAAAGGAGCGCGGGTCCGCTTGCTCCCTGTCCACCCACTCACTGGAGCTCATCCCTTTAGTCTCCCTCCCTGCAGCAAACCTTCCGCCCCTACCCAGGGAGCGCCCTGAGCGCAGATCCAGTCAAGGAGAAACAGACAGGTCACCAGCGGTTACCACCCCTTCCTCCTTAGGCTAGACACGGGGAGCTGGGGGGCCGTTGTCTTCTTTAAGGTCTGGACGGAGTTTCTTCCTGCCCCGGGGAAAAACCAAGGCCCGGCCAGCGCCAGCGCCAGCCCCGGGCCCTGGGAGACCAGGCGTCCTGGTCCCTTCCTTCTGTCTCCGGCTCCCGCCCCCCAAGCAGAAACAGGTCCCTGCACGCCTCCAGCCCAGCCCGCAGCGCGGCGCAGCTCGGCGCAGCTCGGCGCTGGGAGCTCGCTCCGGACTTCTCGGGATTAACCTGCTATTATGTCCCGGAGCCCTTCCCTGCAATGGGCTTCCTCAGCGACCTGTCAGCCCGGCTGGACTGCAACCCGCGTCCGGCGCCCCTCCCGGGCCACCGCCCCGCGCTCGCACCCCTGGCGCCCTCGAGAGCCCCGAGCCGCCTACCGGTGCGGACGCCGCCACAGCCACCCCTGACGCCTCTGGGCAGGGAGCCGGACCCGGGCAGGAGGGGACCCCGGGTGTGCAGAGGGACGTTCGGGCCGTGGCGGCGGCAGCGGAGCGAGCGAGCCTCCGGTCCCGCGGCCGAGACACCTGCCGGGCTGCCCCGCGCCCGCTGCCCCGCGCCGCCTGGCACCGGCCGCTGCCCCCGGGGCCTGCCCCGCCCCGCCCCGCCCCGCTCGGCCCCGGCCAGACTTACAGCCAGTTGCTCGCGGCGGCTGAGAAGACGGCGAAGACGAGGGGGCGCAGCGAACGCAGGCACGAGCGGGGACTCATGGTGCCGCCGCGGGCGCCCGGCCCGGGGCAGCGGCTGCGGCCGCGGGGGGCCTCCCGTCGGGGCTGCAGGTGGGCGCCCGCGGGCGGGCCGGGGCGCGCGCGGCGGGGCTCTGCCTCCGTGTGCCTGCCGGCAGCCTGCCCGCTGCTGCGCCCGCTGCCCGGCGCGGACCAGACTGTCAGCGCCGCCCCAGAGCCGGGATGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGGCGGGCGGGCGGGCGGCCGGGGGGGCGGGCCGGGGGCGGGCCGAGGATGGGGTTACCTGGGCGGGCCCAGCGGCCCGGGACACCCCCCCGGGGGCGGGCCGGAGCGGCGGCGGCTGCCGCCTTAGCCCGCGGGACTGGGCTGCTCCCGGGGCCTCCCCGGCTGGGCGCTCCGGAGGACTTGGGGCCCGAGCCCGCTCCAGGCACGCCTGGCTGCGCGCCGCCGAGCCCGGCCCGGCTAGAGGCGCGGCGACCCAGCTGCCCGGCCGCCGCCCGGGCCTAGGGGACAGGCGGGCACAGCTCCCCCAACCCGCCGCTGCGGGCACTGCAGCGCGGCCCTCGCTGTCCCCCTACCCCCCCCACCGCCCCCCGCCGGCGCCTGGAGCCCAGACCCCGGTCCGACCGCGGCGGACCCACCGGAGCGCGGCTACCACTCGCGCGCACCCAGGCGCTGGCGCTCCGGGTGCCTGGGGCTGCACATCGGGGCGCTGGATGTCTCCCGACCGCCCCCCGCCCGGCCCCTCCCTGCCTCCTGGCCCCCGCGTCCTGCGGCCCAGCCCCTCCCTGGCGCTCACCTCCCTACAGCCTTCCGGGAGCTGGACGGGGCCTCCCCAGCTTTGGGCAGCTTGGGACAGTGGCCCGAGACTGTGGGAATCCGAAACCTCGCTTCTGGCTAGCCACAAGGTCTGGGCGCGCCCCAGGCAGCAGGGTCTTGACTCTGAGCCTCCGTTTTCTCATCCGGGAAGTGGGCTTAAGACGCTGTGATTGGGAGGACAGGAGGAGTTTAGGGAAGCTCTCTTGGCTCACTCACCAAGTCTTACTTTGCATTTGGTTTTCTATGTGCTTGTTCGATTTATCCTCCCATACTAGGCAGATTCAGCCTCTTGTTTGTTTTGGGCACAGGGCGGTGCCTGCCATGTTTGTGGAAGGAATAAATGAATGGAATGGAATGGGCTGCAACAGCCTGTGCTTGGCTAGTCCAGAGAGCTCAATTCCACATCACTGTAACCCCTAAGAATTGTCTGCCCAAGTCCACGCCACACCCTCTCAGGTCACTGATCTGATTCTGTGTGCTACTCATCCTCCAGGCTGCATCCCCCAGCTGCTCACAGGTAGAGGGACCTCTTATCTAAACAGTAAAACTAAGGCCCGGAAAGGGAGGCACCTGTCCCACCTCCCTAGGGGTTGGGAACAGAGGCAAGGACCAGGTCTATGCCCTCACCCCCTGATCTTAGTTCTTCACTGATTTTGGAGTATGAAGTTTGCTCCCACAGAGGCCATCATGTTTGGGTGCTGGGATGGTGCCCTGGGGTCCCCTGGGCTCAGAACAGAGGAAGGGCTCAGTAAACATTTGGTATTGGGACTGGGTGGAACGTGGCAGGGATTTGTGGGGCTGGGCAAGAGTATAGATGGAGGTTCACATACCATATGTCCAAATATTTGCAGGCTATAAATCAAGCTAACAAAATGCAAAATAAATTATGTTCTATTCTTCTATCTTGACAAATACACTTTCCTAACAAGGCAGAAAGCTGGCTTTGAGTGTGGCATTCTCATACTCCTCAGACCTTGCCCTGGAGCTGGTGGCACAGGGAGAGGGGGCCCCTAGTGCCTGGCCTGGGCCCCTGCCCCCTACCTTTTCCTACCTCTGCCTCTGTCCTGTCCTTCGAGAGTCTTGTGCACATTCATGAACATCTCAGCCTGCACATGCAAGCTCAGCCCCTTGGTAGCCCCTCAGGCTTAGGGCTGGGCACGCCAGTGGTGTACTCTGTCCTCGGG
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Task1_train_574
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This alteration occurs within gene C1QC (complement C1q C chain) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; C1Q deficiency
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ATACCCCACCATCCACCCACTACCCCGATGCAAAATCTCTGGCCCCTCTGGGAGGGGAATGAACTGGAGCTGCCCGGAGCGGGGCCAAGTGGGCGGGGCACGGGAGGGTTGAGCGTGGGCCGAGGCTGCCACCTGCTGGACAAGCCGAACCCAGGCGCAGAGGAGGTGAAGAGGGAGGAGAGGAGCCCAGAGCCGTTAGGCTGGGTGGCCCCCAGCCCCATAATGCAGTATCCATCATTTCTTCTCGGCCCAGGCTTCCACCCACCAGGGACTCCTAGGGCCAAGTGGGTTCATGCCCCTTAACTCACCCCACACTCTCTGCAGTCCCATGGCACGTGGTGGAGACACAGAAGGGGAGACTGAGACCCTGAGGGTTCCTCAGTGAGGCAGGGGAAGAGCTCTGAACACCTGCCCATACCTGGCACGGGACAAGGCATCACACGTGTGTTGTGCACTGAATCCCAGCCACTGGCCTGGAGCTGTAAGAAGCCTCCATGTTACAGAGGGGGAACCAATGGACACAGGTGGCAGGTGTGGGGTCGAGGCTGGAGCCCTGCTACTGCCTGACAGCCCCTTCATCCCTAGAATCTCATGTGAGGAGAAGAGGGAGAGGGGAGAAGGCCTCTCAGCTCTGCCAGCCTGGTCCTGATGGGGAGCCCCTCACCAGCCATGGTGGGCTCCAAGCCCAGAGGCAGGGCACCCCCAGGATGCAGGCAAGGAGGGTGGTGTTGGCAGGGAAGATGGAACCGTCAGGGAAGACCAGGTGCCCCAACGAAGGAAGAGGCACCAATACTGAAAGCCAAGGCCACCCCAGTAGACAGAAGGGAGGCCAGAGGGACCAGTGATTTGCTGAAGGCATCTGGTCCATGCAGTGACAGGGCTGGAAGGAGAAGCCAGGGCCCTGGCTCTGTAGCCAGGGCAGCCCGTGCACCACAACAGCTGCCTGCCGCCAAAGCGGGTCCATCCTGGGGGTCCACCTCCAAGTGTGGCCACTGGGATGGGGCACATGGAAGTTTCTAGAACAAGGCTTGCAACTTGACAAGTGCATGTGAGGCTTGTTTCTGGGGGCAGCTGAGCAGAGGGGTCAGAGCAAGGCTTTGGGCCCCAAGAGACCACTCAGTGTGTGACTTTGGGCAACGGTGTACATCCTCCTGAGCCTGTTTCCTTATCTGTAAAGGGGGATAATAACTTCCTCCTAGGGATTCTGGGAAAACTGAGTCTCAGGCAAAGCAAATGCTAACATTGGTCATTAGATGGGATGAACCTGACTCTGGGGGACGTCTGTGCCCTGGGGGCTTGTGTTTATACACACACACACACACACACACACACACACACCCTCAGCCAGATGCTGGGGCAGGGGACAGTTCCTCATTTCGGACACTGACTGCCGGTGGGGGGATGTGGATGGGGTATTGCTGTGGTCAGTCTGGCTCAGCACCCAAAAGAAAGTGTCAAGTCAGGGAAAATTCTGGGAAAGGGGATGTGGGATTGGGGGAGGGCACGAGAAGGGGAGGGGGCCCAGCCCTGCTTTGGGCAATCCTTGCTCTGACCACTCAGACACCGTGTCCTCTTGCCTGGGAGAGGGGAAGCAGATCTGAGGACATCTCTGTGCCAGGCCAGAAACCGCCCACCTGCAGGTGAGGCCCGGACCCCTGCCCAGGTATGGGCAGATGGCCGTTTCCTCCACCTTCCGCCACCTTCCTGAAATGTGGTGCCAGGGGCAGCTTGGTGTGTGAGGGGAAGGAGGGTTCCCACTCCTGCTGGGCCCCGGGGCCTGGGCTGAAGAAAAGGCCCCACCATCCATCCATGGTGAGGCTCCTGGGGGAGGAAGGAAGGCGAGCTCCCGAGGGCTGAGGAGGACGGGCCCTGGGGAATGAGAGGGTTGGGGGCAGGTGAGGGGCTGGCGGGGACAGCTCAGCTCTCTCCCTCCCAGTTCCTTCTCCGGGATGGACGTGGGGCCCAGCTCCCTGCCCCACCTTGGGCTGAAGCTGCTGCTGCTCCTGCTGCTGCTGCCCCTCAGGGGCCAAGCCAACACAGGCTGCTACGGGATCCCAGGGATGCCCGGCCTGCCCGGGGCACCAGGGAAGGATGGGTACGACGGACTGCCGGGGCCCAAGGGGGAGCCAGGTGAGTCTGCTGGCCTGGTTTGGGGGTTTGGGTCTGGGGCAGGGATCAGAGTGTCTGTCTGGGGCTGACCAAGGGGGCGGGGGACAGCAGGAAGTGCTTGCCTTGCTGCCACGCCTGCCCCAGGGCAGAGGTGGACTCTCACGGTGTGTCTGGCTCCTCTATCCTCAGAGCCCAGGCTTCAGGCCACCCCAGAGGTGACCTTGGGCCCAGCGCACTTCCATCTTCCTTCTCCTCCTTACCCGATTATAGGGAGGGAATAAGAGCGCCTGCCCCCAAAGGTGGCCAGGAGGCTCACAGGAGACAGTGCAGGGAAAGTCTTCTTGCCCTGCAACATGGGCACCTGGGGAAGCTGGGGCCCACACAGTGAATATATCCAATGCACGACTGCCAGGGTTCAAATCCCAGCCCCTACTGATTCCCTCTATGTGAACCCGCACAAGTTACTTAACCTCGCAGTGCCTCAGTTTCCTCATCTGTAAAACGAGGAGATGGTAGCACCTGCTTCACAAGGTTGCTGTGAGGATTAAGTTAACTTAAATATAAAACAGCCCTGAGCACCTGGGAGGTCTATACAGGTGTAGGCTATTTTATCATTGGTTTTATCAGATATCCATGCTCACCTCCCTCCTTAGGATTCTGGATAGTTGGAGGGGTGGGGAGTAGGAGGTCAGGATCGCAGCCAGAGAAACTTCTGTTGGAGGTCCACAGGCAATCCTTGGCATAAGAGAAGGGGGCTGAGGCTATGAATGGGTGACTGGGGCTGGAACTGGAGCCCTGGGGGGTATGAGTGCCTTGTCTGTGAGTGAGCTGGGCACGTCTCAGATGCTAGGCATGCCTGGAGCCGGCCTGGGGTGACACTGAGCGGAGGTGATGGGGTGACAGAGGCAGTGGAAAGGAGGGAGGCCAGTTGAGAGGAATGTCCTTAGGAGTGGTCCCACCATCATCTTCCCTCCTGGATAGAGGGAATGGCACCAACATTCCAGAAGGAATTCTCCAATTTAGGGTGAGCTTAGGGTGAGCTCAAAGCTCAATGAGGCCTCCAGGTCTGCCATTTTCCAGGAGCTTGTACTTCACAGCTGCCTCTGACCACCTCCCTGCCCAGGGTAGCTGATGGCCACCCGTGATTGAGCCCCCAAGTCCCAGGTGTGGTCTCAGTTTTAGGAAATGATAAAACCGAGGCCACAATCCCTTGAAAAAGTGATTGACCCTCATTTTGCAAATGTCAAAGCTGGGGTTCAGAGAGATTGAGCAACTTGTCCAAAGTCACACAGTGGGATCCTGTCCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGGTCTGCTGGGTCCCGACCCCACACTCCTAATGCTGAGGCCTAAGAGGTTCATAAGCCATAGAGGATCTGTCATAAATGGGTCTGCACAGTCACCCAGCCTGACGGAAGTCAGAGGAGGAAAGGAAACATGAGGGCTGATGGGAGCGGTCAAGGAGGGCTTCTTGGAAGAAGAAACTGGAGTCAGCCCTTAAAAGATGAGTATGATTTAGATAAGGGGAGAAGAATCTCACAGAGGCTCAGATCATCAGGGCTGGAACAGAGTGAGACACTGGGATTCTCCAGACTTGAGTTAGAGACCTGACTCCACCTCAAACTGGCTGCACGGCCTTGGGCAAGTCTCTAACTCGGCTTCCTCATCGGCAACA
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ATACCCCACCATCCACCCACTACCCCGATGCAAAATCTCTGGCCCCTCTGGGAGGGGAATGAACTGGAGCTGCCCGGAGCGGGGCCAAGTGGGCGGGGCACGGGAGGGTTGAGCGTGGGCCGAGGCTGCCACCTGCTGGACAAGCCGAACCCAGGCGCAGAGGAGGTGAAGAGGGAGGAGAGGAGCCCAGAGCCGTTAGGCTGGGTGGCCCCCAGCCCCATAATGCAGTATCCATCATTTCTTCTCGGCCCAGGCTTCCACCCACCAGGGACTCCTAGGGCCAAGTGGGTTCATGCCCCTTAACTCACCCCACACTCTCTGCAGTCCCATGGCACGTGGTGGAGACACAGAAGGGGAGACTGAGACCCTGAGGGTTCCTCAGTGAGGCAGGGGAAGAGCTCTGAACACCTGCCCATACCTGGCACGGGACAAGGCATCACACGTGTGTTGTGCACTGAATCCCAGCCACTGGCCTGGAGCTGTAAGAAGCCTCCATGTTACAGAGGGGGAACCAATGGACACAGGTGGCAGGTGTGGGGTCGAGGCTGGAGCCCTGCTACTGCCTGACAGCCCCTTCATCCCTAGAATCTCATGTGAGGAGAAGAGGGAGAGGGGAGAAGGCCTCTCAGCTCTGCCAGCCTGGTCCTGATGGGGAGCCCCTCACCAGCCATGGTGGGCTCCAAGCCCAGAGGCAGGGCACCCCCAGGATGCAGGCAAGGAGGGTGGTGTTGGCAGGGAAGATGGAACCGTCAGGGAAGACCAGGTGCCCCAACGAAGGAAGAGGCACCAATACTGAAAGCCAAGGCCACCCCAGTAGACAGAAGGGAGGCCAGAGGGACCAGTGATTTGCTGAAGGCATCTGGTCCATGCAGTGACAGGGCTGGAAGGAGAAGCCAGGGCCCTGGCTCTGTAGCCAGGGCAGCCCGTGCACCACAACAGCTGCCTGCCGCCAAAGCGGGTCCATCCTGGGGGTCCACCTCCAAGTGTGGCCACTGGGATGGGGCACATGGAAGTTTCTAGAACAAGGCTTGCAACTTGACAAGTGCATGTGAGGCTTGTTTCTGGGGGCAGCTGAGCAGAGGGGTCAGAGCAAGGCTTTGGGCCCCAAGAGACCACTCAGTGTGTGACTTTGGGCAACGGTGTACATCCTCCTGAGCCTGTTTCCTTATCTGTAAAGGGGGATAATAACTTCCTCCTAGGGATTCTGGGAAAACTGAGTCTCAGGCAAAGCAAATGCTAACATTGGTCATTAGATGGGATGAACCTGACTCTGGGGGACGTCTGTGCCCTGGGGGCTTGTGTTTATACACACACACACACACACACACACACACACACCCTCAGCCAGATGCTGGGGCAGGGGACAGTTCCTCATTTCGGACACTGACTGCCGGTGGGGGGATGTGGATGGGGTATTGCTGTGGTCAGTCTGGCTCAGCACCCAAAAGAAAGTGTCAAGTCAGGGAAAATTCTGGGAAAGGGGATGTGGGATTGGGGGAGGGCACGAGAAGGGGAGGGGGCCCAGCCCTGCTTTGGGCAATCCTTGCTCTGACCACTCAGACACCGTGTCCTCTTGCCTGGGAGAGGGGAAGCAGATCTGAGGACATCTCTGTGCCAGGCCAGAAACCGCCCACCTGCAGGTGAGGCCCGGACCCCTGCCCAGGTATGGGCAGATGGCCGTTTCCTCCACCTTCCGCCACCTTCCTGAAATGTGGTGCCAGGGGCAGCTTGGTGTGTGAGGGGAAGGAGGGTTCCCACTCCTGCTGGGCCCCGGGGCCTGGGCTGAAGAAAAGGCCCCACCATCCATCCATGGTGAGGCTCCTGGGGGAGGAAGGAAGGCGAGCTCCCGAGGGCTGAGGAGGACGGGCCCTGGGGAATGAGAGGGTTGGGGGCAGGTGAGGGGCTGGCGGGGACAGCTCAGCTCTCTCCCTCCCAGTTCCTTCTCCGGGATGGACGTGGGGCCCAGCTCCCTGCCCCACCTTGGGCTGAAGCTGCTGCTGCTCCTGCTGCTGCTGCCCCTCAGGGGCCAAGCCAACACAGGCTGCTACAGGATCCCAGGGATGCCCGGCCTGCCCGGGGCACCAGGGAAGGATGGGTACGACGGACTGCCGGGGCCCAAGGGGGAGCCAGGTGAGTCTGCTGGCCTGGTTTGGGGGTTTGGGTCTGGGGCAGGGATCAGAGTGTCTGTCTGGGGCTGACCAAGGGGGCGGGGGACAGCAGGAAGTGCTTGCCTTGCTGCCACGCCTGCCCCAGGGCAGAGGTGGACTCTCACGGTGTGTCTGGCTCCTCTATCCTCAGAGCCCAGGCTTCAGGCCACCCCAGAGGTGACCTTGGGCCCAGCGCACTTCCATCTTCCTTCTCCTCCTTACCCGATTATAGGGAGGGAATAAGAGCGCCTGCCCCCAAAGGTGGCCAGGAGGCTCACAGGAGACAGTGCAGGGAAAGTCTTCTTGCCCTGCAACATGGGCACCTGGGGAAGCTGGGGCCCACACAGTGAATATATCCAATGCACGACTGCCAGGGTTCAAATCCCAGCCCCTACTGATTCCCTCTATGTGAACCCGCACAAGTTACTTAACCTCGCAGTGCCTCAGTTTCCTCATCTGTAAAACGAGGAGATGGTAGCACCTGCTTCACAAGGTTGCTGTGAGGATTAAGTTAACTTAAATATAAAACAGCCCTGAGCACCTGGGAGGTCTATACAGGTGTAGGCTATTTTATCATTGGTTTTATCAGATATCCATGCTCACCTCCCTCCTTAGGATTCTGGATAGTTGGAGGGGTGGGGAGTAGGAGGTCAGGATCGCAGCCAGAGAAACTTCTGTTGGAGGTCCACAGGCAATCCTTGGCATAAGAGAAGGGGGCTGAGGCTATGAATGGGTGACTGGGGCTGGAACTGGAGCCCTGGGGGGTATGAGTGCCTTGTCTGTGAGTGAGCTGGGCACGTCTCAGATGCTAGGCATGCCTGGAGCCGGCCTGGGGTGACACTGAGCGGAGGTGATGGGGTGACAGAGGCAGTGGAAAGGAGGGAGGCCAGTTGAGAGGAATGTCCTTAGGAGTGGTCCCACCATCATCTTCCCTCCTGGATAGAGGGAATGGCACCAACATTCCAGAAGGAATTCTCCAATTTAGGGTGAGCTTAGGGTGAGCTCAAAGCTCAATGAGGCCTCCAGGTCTGCCATTTTCCAGGAGCTTGTACTTCACAGCTGCCTCTGACCACCTCCCTGCCCAGGGTAGCTGATGGCCACCCGTGATTGAGCCCCCAAGTCCCAGGTGTGGTCTCAGTTTTAGGAAATGATAAAACCGAGGCCACAATCCCTTGAAAAAGTGATTGACCCTCATTTTGCAAATGTCAAAGCTGGGGTTCAGAGAGATTGAGCAACTTGTCCAAAGTCACACAGTGGGATCCTGTCCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGGTCTGCTGGGTCCCGACCCCACACTCCTAATGCTGAGGCCTAAGAGGTTCATAAGCCATAGAGGATCTGTCATAAATGGGTCTGCACAGTCACCCAGCCTGACGGAAGTCAGAGGAGGAAAGGAAACATGAGGGCTGATGGGAGCGGTCAAGGAGGGCTTCTTGGAAGAAGAAACTGGAGTCAGCCCTTAAAAGATGAGTATGATTTAGATAAGGGGAGAAGAATCTCACAGAGGCTCAGATCATCAGGGCTGGAACAGAGTGAGACACTGGGATTCTCCAGACTTGAGTTAGAGACCTGACTCCACCTCAAACTGGCTGCACGGCCTTGGGCAAGTCTCTAACTCGGCTTCCTCATCGGCAACA
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Task1_train_575
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The variant affects gene C1QC (complement C1q C chain), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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CCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGGTCTGCTGGGTCCCGACCCCACACTCCTAATGCTGAGGCCTAAGAGGTTCATAAGCCATAGAGGATCTGTCATAAATGGGTCTGCACAGTCACCCAGCCTGACGGAAGTCAGAGGAGGAAAGGAAACATGAGGGCTGATGGGAGCGGTCAAGGAGGGCTTCTTGGAAGAAGAAACTGGAGTCAGCCCTTAAAAGATGAGTATGATTTAGATAAGGGGAGAAGAATCTCACAGAGGCTCAGATCATCAGGGCTGGAACAGAGTGAGACACTGGGATTCTCCAGACTTGAGTTAGAGACCTGACTCCACCTCAAACTGGCTGCACGGCCTTGGGCAAGTCTCTAACTCGGCTTCCTCATCGGCAACATGAGGGAAGTTGAACCAGGCCAGCTGTCATGGGGGCTGACGTGGGCTGAATGGGGCTGGGGTGAGCTGGAGAGAGCAGGCCCTGCAGTGGGGCGGCTTCTATTCGGCTCCTTCCAGTGGTTCCCATGTGCTAACCTGGGGAATCCATCTCAGGAGCAGATATAGGTTTTGTGGGACTCTGAAGCTTGTAAAATGTTGAGGGTCTTCTTTATGAAAAATAATACAAACTGAAAGATGCGCTTGATTGCAGAGGTGAGAGTGGTTACAAAAATTTACACATGTAGCAAAATTATATTGGAACCACACACACAGTGTATATAAAACTGGTGAAGTCTACATAAGCTTTGTGAATTCTAGGAATGTCAGCTTCCTGGTTTTGACATTATACTTTAGTCATACAAGCTGTGTCACTGGGGAAAACTGGGTGAAGAGTCCCTGTTCTTTTGTTTCTTCAACTTTCTTTGACTCTATATTTCAAAATAAAAAAGTTGAAAAAAATCAGAAATACAAAATTAGGCAAAAGGTCTTGAAGGGGCTGATGCAAGTGGACAGAACCTGAAACTTAAGCTGCCTCTGACCAACCTTCTGATTTTTTGTCAAGAAGGTCTGAGAATTTCAAATTTTAAATAAGTTCTGAATTTGTTCATGTTGGGCTCCAATTAAAAATTTTAAAAAACATTGTGCAGGCCAAACAAGATACTTGTGGCCACATGCCATCTGTCCGTGGGCTGACAGTCATGGCATCTGTGATCCCGCCCAGCTCTGAGCTCCCTACTTGCTTCATCACAAATGTGGAAACTGAGGCCAAGAGACAGGGAAGTGCCTTAGACAAGGTCAGAGGGCAGGTCAGTGGAGAAGCAGGACTTGAACCAGACTCTCTCTCTCCCCTCCAGCCAAAGCCTAACTCCCTGCACCCTGCTCCTAGGGAGATAGCCCATCTATGAGAAGGAGATTCTAGAGACCAAATGCCAGCGCTGTGTTCCCTGGAAGACACCCTCAGGGTCCCTCCTCCCTGTCCCCCACCCTATCACTTTCTCTCTGCCTTCTCCATCTCCAGGAATCCCAGCCATTCCCGGGATCCGAGGACCCAAAGGGCAGAAGGGAGAACCCGGCTTACCCGGCCATCCTGGGAAAAATGGCCCCATGGGACCCCCTGGGATGCCAGGGGTGCCCGGCCCCATGGGCATCCCTGGAGAGCCAGGTGAGGAGGGCAGATACAAGCAGAAATTCCAGTCAGTGTTCACGGTCACTCGGCAGACCCACCAGCCCCCTGCACCCAACAGCCTGATCAGATTCAACGCGGTCCTCACCAACCCGCAGGGAGATTATGACACGAGCACTGGCAAGTTCACCTGCAAAGTCCCCGGCCTCTACTACTTTGTCTACCACGCGTCGCATACAGCCAACCTGTGCGTGCTGCTGTACCGCAGCGGCGTCAAAGTGGTCACCTTCTGTGGCCACACGTCCAAAACCAATCAGGTCAACTCGGGCGGTGTGCTGCTGAGGTTGCAGGTGGGCGAGGAGGTGTGGCTGGCTGTCAATGACTACTACGACATGGTGGGCATCCAGGGCTCTGACAGCGTCTTCTCCGGCTTCCTGCTCTTCCCCGACTAGGGCGGGCAGATGCGCTCGAGCCCCACGGGCCTTCCACCTCCCTCAGCTTCCTGCATGGACCCACCTTACTGGCCAGTCTGCATCCTTGCCTAGACCATTCTCCCCACCAGATGGACTTCTCCTCCAGGGAGCCCACCCTGACCCACCCCCACTGCACCCCCTCCCCATGGGTTCTCTCCTTCCTCTGAACTTCTTTAGGAGTCACTGCTTGTGTGGTTCCTGGGACACTTAACCAATGCCTTCTGGTACTGCCATTCTTTTTTTTTTTTTTTTCAAGTATTGGAAGGGGTGGGGAGATATATAAATAAATCATGAAATCAATACATATGCCTGGCTCAGATTCCTCATTGCTGATTCCTTGAATTTCGGATCTTCAACTTTGCATCAGCCATAGCTGGGCTCTGGACTCAAGGCATCTGGTTGGTGCTCAGGAAAGCTTGGCTGCCAGTGTTGGGACACTCAGCACCATTTGGCCTGGTGGGAGAGAGATGTTCTAAGTGTGGTTACATGCTGCCAGCGGTCCCCAAGGGATCATCTGCTGTCACTTTTTTTGGGGGAGAGGCACTGCCATCATTAAAGGTATCCAAGCCCACAGGTAAATGGGAGTCAGTTTGACTTCCTGGGCCTGTGCTGAACTTCAGGAGCATTTACTATGGGAGGAAATTGGGCTTGGGTAAGCCCAGAACAGACAAAGGCAAGATGTGCAATGAATTTGTGCTGAATGAATAAGAAATTGGTGTGAATGAATTATTGCATAAGTGGGTAAGTGAATAACTAAAAGCAGAGTAAATGAATGAATGAATAAAAATCATAATAACTAACATTTATTGAGCACTTAGTGTATGCCAGCCATTACACTAAGCACGTTACACATATTAACTCATTTAATATTCATTATCACAGGGGCAACGATGCCTCATGTCATTCCGTGTTTAACACCAGTCTCCCCTCGTAGAAGGGAGGCCCCATGGGGGCAGGGACCATGGCTGATTTGCTAAGAGCTCTCTTTTCTGTGCCTAGATGCTCTGAGATGGGCATGAGGGGGAGACAGAGAGAGAAAACTGGCCTCCCAGATGTCTGACTTGCCCCAAATAACTCACAGACTCTGGGACTCCCAGGAGATCTGAAACCACTGCTGCCCACCGGCCATCAAGTTTTGACTGTGAGGTTGCTGGTGGTTGGATCCAGCCACCATGGTCCTTCTTGGAGGATGATGGAAGCCCACAATTTGATGTTGCAGGTACAAAAAGATAAAAAGTCTAACTCTCCTATGCAGGCTCCAGGTCCAATTCTCAGCACCCAGTCAGACTCGAGGCTCACTCTAGCCTGGGAGAACCTGGCCTGTCCTGGCTGTGATCACAGCTTGGTTCCACAAAGCCCCACGGAGTCATGGAAGCACCAGCCATCTGAGGTGTGGGCTGTTAAGAGCAGTGGCTCAAGCTGAGTTCTACAACCACCTCCATTCACTTTGGCTCCTCTGTTTGGGAAAGGGGCTGTGTCACACCTCCCTGCCTTTGCCCATGCAGTCCCTCCCACTCATGCAAATCATCCATCCACCTGGATGATATTCATTCACTCAACTGTCAGGAGTCAACACAAACATCACCTCCTCCATGAAGCCTTCTCCGATTTACCCCTTGGGTCCCCACAGTGCCCTCCACAAATTTGGGCACAAATTCATGACTCCTTAGAGCCCAGGTTCCCAAATCAGATGGTGAATAAAATTAACCTAAAGACTTATTTAAAACAAAATAAAACAAACAAAACCAGATTTCTCAACTCCAGGCTGCTTTATAAAG
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CCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGGTCTGCTGGGTCCCGACCCCACACTCCTAATGCTGAGGCCTAAGAGGTTCATAAGCCATAGAGGATCTGTCATAAATGGGTCTGCACAGTCACCCAGCCTGACGGAAGTCAGAGGAGGAAAGGAAACATGAGGGCTGATGGGAGCGGTCAAGGAGGGCTTCTTGGAAGAAGAAACTGGAGTCAGCCCTTAAAAGATGAGTATGATTTAGATAAGGGGAGAAGAATCTCACAGAGGCTCAGATCATCAGGGCTGGAACAGAGTGAGACACTGGGATTCTCCAGACTTGAGTTAGAGACCTGACTCCACCTCAAACTGGCTGCACGGCCTTGGGCAAGTCTCTAACTCGGCTTCCTCATCGGCAACATGAGGGAAGTTGAACCAGGCCAGCTGTCATGGGGGCTGACGTGGGCTGAATGGGGCTGGGGTGAGCTGGAGAGAGCAGGCCCTGCAGTGGGGCGGCTTCTATTCGGCTCCTTCCAGTGGTTCCCATGTGCTAACCTGGGGAATCCATCTCAGGAGCAGATATAGGTTTTGTGGGACTCTGAAGCTTGTAAAATGTTGAGGGTCTTCTTTATGAAAAATAATACAAACTGAAAGATGCGCTTGATTGCAGAGGTGAGAGTGGTTACAAAAATTTACACATGTAGCAAAATTATATTGGAACCACACACACAGTGTATATAAAACTGGTGAAGTCTACATAAGCTTTGTGAATTCTAGGAATGTCAGCTTCCTGGTTTTGACATTATACTTTAGTCATACAAGCTGTGTCACTGGGGAAAACTGGGTGAAGAGTCCCTGTTCTTTTGTTTCTTCAACTTTCTTTGACTCTATATTTCAAAATAAAAAAGTTGAAAAAAATCAGAAATACAAAATTAGGCAAAAGGTCTTGAAGGGGCTGATGCAAGTGGACAGAACCTGAAACTTAAGCTGCCTCTGACCAACCTTCTGATTTTTTGTCAAGAAGGTCTGAGAATTTCAAATTTTAAATAAGTTCTGAATTTGTTCATGTTGGGCTCCAATTAAAAATTTTAAAAAACATTGTGCAGGCCAAACAAGATACTTGTGGCCACATGCCATCTGTCCGTGGGCTGACAGTCATGGCATCTGTGATCCCGCCCAGCTCTGAGCTCCCTACTTGCTTCATCACAAATGTGGAAACTGAGGCCAAGAGACAGGGAAGTGCCTTAGACAAGGTCAGAGGGCAGGTCAGTGGAGAAGCAGGACTTGAACCAGACTCTCTCTCTCCCCTCCAGCCAAAGCCTAACTCCCTGCACCCTGCTCCTAGGGAGATAGCCCATCTATGAGAAGGAGATTCTAGAGACCAAATGCCAGCGCTGTGTTCCCTGGAAGACACCCTCAGGGTCCCTCCTCCCTGTCCCCCACCCTATCACTTTCTCTCTGCCTTCTCCATCTCCAGGAATCCCAGCCATTCCCGGGATCCGAGGACCCAAAGGGCAGAAGGGAGAACCCGGCTTACCCGGCCATCCTGGGAAAAATGGCCCCATGGGACCCCCTGGGATGCCAGGGGTGCCCGGCCCCATGGGCATCCCTGGAGAGCCAGGTGAGGAGGGCAGATACAAGCAGAAATTCCAGTCAGTGTTCACGGTCACTCGGCAGACCCACCAGCCCCCTGCACCCAACAGCCTGATCAGATTCAACGCGGTCCTCACCAACCCGCAGGGAGATTATGACACGAGCACTGGCAAGTTCACCTGCAAAGTCCCCAGCCTCTACTACTTTGTCTACCACGCGTCGCATACAGCCAACCTGTGCGTGCTGCTGTACCGCAGCGGCGTCAAAGTGGTCACCTTCTGTGGCCACACGTCCAAAACCAATCAGGTCAACTCGGGCGGTGTGCTGCTGAGGTTGCAGGTGGGCGAGGAGGTGTGGCTGGCTGTCAATGACTACTACGACATGGTGGGCATCCAGGGCTCTGACAGCGTCTTCTCCGGCTTCCTGCTCTTCCCCGACTAGGGCGGGCAGATGCGCTCGAGCCCCACGGGCCTTCCACCTCCCTCAGCTTCCTGCATGGACCCACCTTACTGGCCAGTCTGCATCCTTGCCTAGACCATTCTCCCCACCAGATGGACTTCTCCTCCAGGGAGCCCACCCTGACCCACCCCCACTGCACCCCCTCCCCATGGGTTCTCTCCTTCCTCTGAACTTCTTTAGGAGTCACTGCTTGTGTGGTTCCTGGGACACTTAACCAATGCCTTCTGGTACTGCCATTCTTTTTTTTTTTTTTTTCAAGTATTGGAAGGGGTGGGGAGATATATAAATAAATCATGAAATCAATACATATGCCTGGCTCAGATTCCTCATTGCTGATTCCTTGAATTTCGGATCTTCAACTTTGCATCAGCCATAGCTGGGCTCTGGACTCAAGGCATCTGGTTGGTGCTCAGGAAAGCTTGGCTGCCAGTGTTGGGACACTCAGCACCATTTGGCCTGGTGGGAGAGAGATGTTCTAAGTGTGGTTACATGCTGCCAGCGGTCCCCAAGGGATCATCTGCTGTCACTTTTTTTGGGGGAGAGGCACTGCCATCATTAAAGGTATCCAAGCCCACAGGTAAATGGGAGTCAGTTTGACTTCCTGGGCCTGTGCTGAACTTCAGGAGCATTTACTATGGGAGGAAATTGGGCTTGGGTAAGCCCAGAACAGACAAAGGCAAGATGTGCAATGAATTTGTGCTGAATGAATAAGAAATTGGTGTGAATGAATTATTGCATAAGTGGGTAAGTGAATAACTAAAAGCAGAGTAAATGAATGAATGAATAAAAATCATAATAACTAACATTTATTGAGCACTTAGTGTATGCCAGCCATTACACTAAGCACGTTACACATATTAACTCATTTAATATTCATTATCACAGGGGCAACGATGCCTCATGTCATTCCGTGTTTAACACCAGTCTCCCCTCGTAGAAGGGAGGCCCCATGGGGGCAGGGACCATGGCTGATTTGCTAAGAGCTCTCTTTTCTGTGCCTAGATGCTCTGAGATGGGCATGAGGGGGAGACAGAGAGAGAAAACTGGCCTCCCAGATGTCTGACTTGCCCCAAATAACTCACAGACTCTGGGACTCCCAGGAGATCTGAAACCACTGCTGCCCACCGGCCATCAAGTTTTGACTGTGAGGTTGCTGGTGGTTGGATCCAGCCACCATGGTCCTTCTTGGAGGATGATGGAAGCCCACAATTTGATGTTGCAGGTACAAAAAGATAAAAAGTCTAACTCTCCTATGCAGGCTCCAGGTCCAATTCTCAGCACCCAGTCAGACTCGAGGCTCACTCTAGCCTGGGAGAACCTGGCCTGTCCTGGCTGTGATCACAGCTTGGTTCCACAAAGCCCCACGGAGTCATGGAAGCACCAGCCATCTGAGGTGTGGGCTGTTAAGAGCAGTGGCTCAAGCTGAGTTCTACAACCACCTCCATTCACTTTGGCTCCTCTGTTTGGGAAAGGGGCTGTGTCACACCTCCCTGCCTTTGCCCATGCAGTCCCTCCCACTCATGCAAATCATCCATCCACCTGGATGATATTCATTCACTCAACTGTCAGGAGTCAACACAAACATCACCTCCTCCATGAAGCCTTCTCCGATTTACCCCTTGGGTCCCCACAGTGCCCTCCACAAATTTGGGCACAAATTCATGACTCCTTAGAGCCCAGGTTCCCAAATCAGATGGTGAATAAAATTAACCTAAAGACTTATTTAAAACAAAATAAAACAAACAAAACCAGATTTCTCAACTCCAGGCTGCTTTATAAAG
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Task1_train_576
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Given a variant located on Chromosome 1 and affecting C1QB (complement C1q B chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; C1Q deficiency
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ATGGATGGATGGATGGATGGATGCAGATGGAGGAATAGAGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGATAGGATCACCACGGTGGTAACCTCTCACATTGTCTTCTCCACAGGAGGCGTCTGACACAGTATGATGATGAAGATCCCATGGGGCAGCATCCCAGTACTGATGTTGCTCCTGCTCCTGGGCCTAATCGATATCTCCCAGGCCCAGCTCAGCTGCACCGGGCCCCCAGCCATCCCTGGCATCCCGGGTATCCCTGGGACACCTGGCCCCGATGGCCAACCTGGGACCCCAGGGATAAAAGGAGAGAAAGGTACCATGGGATTTAGCAGGACACTGGTAATACTGACCAAATTTCCCGTCTCCTGCCTCCCAAGTCACAGTTGCCTACCTTTGAGACTGCAAAAGCACTGGCAAATCCAGCAGCTTGCTGAACCCTTGCAGTAACTTTGCAAGGAGGGAATTCTGATTCCCATTTTACAGAGAGGAAAACTAGCATCTAGAAAGTCTGCTGACTTACTCAAGGTAGCCCAGTAAATGTTGAGGCTAAGACCAGACCACGGATCTCTTACCATTAAATTCAGGTGGAGAGGGAGTGCCGCTGTGGCCACAGAGTCCTGTGTTTAAACTTACCTCCTGGGCAAATGACTTCTCTCTGAATTGCTATTTCCTCACCTGTAAGATGGGGGCAATGGTACTTTTTTGGGGTTGTCATGGGGTTCAAATGAGACTCCCAGCCTTGAAAACCCCTCTGTAAAATTTGGTTTATTCATTCATTTAACCTACCGTTATAGAGCAACTGTCTGTGCCAGTCACTCTCCTCACATAATCTCATCTAATCCTTACAATCCCACAAAATATCTTCATCCCCATTTCACAGATGAGGAGGCTGTCCTCAGGAAATGTGACTCAGTCAAGGTGACACCACTACTAATGGCAGATGTGACACGCAAAGCACATCTCTCTGTCCCCAGATCCCATCTTCTCAGGCCCTATTCTCTGCCACTCTACTGGAAAATCGGTCTTATCTTGTGTTGTGCCAAACCAAGGGGTAGTGGCTGCTTGGGGGGTGGAGTGAGAAGGAGTCTAAAGTCCATTTCCAGGAGCAGCAAGAGTGAAGGCCATGGTTGATTAGGGATGTCTGCCAGGGGTGAGGGATAGAGGGAGACAGCACTCATTATCCCTGCTCTAGCTGAAGAAGGACCCCCACACAAGCTGGGGAGGAGGGCCGGCCTAGCACCTTCCTTAGCAAGGAGCCATTCCCCTCCCCACGATCAGCAGCCCCCAAGAAGGTCAAGCATATCACAGACTCAGGAAGCTGGGCTGGAGGGAGACCCAGAGCCCCTGCCTGACACTGCCTCCTTCGTTTTACAGATGGGAGACTGAGGCTCAGAGAGAGGCAGGGCCCTGCCCAAGGTTCCAGCGCAGGCCTCCTTCTTTTGGTCTCAGTGATCTCACTTCTTTGGTCTCTGCTTTTCCAGGGCTTCCAGGGCTGGCTGGAGACCATGGTGAGTTCGGAGAGAAGGGAGACCCAGGGATTCCTGGGAATCCAGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAGGTGAATCGGGAGACTACAAGGCCACCCAGAAAATCGCCTTCTCTGCCACAAGAACCATCAACGTCCCCCTGCGCCGGGACCAGACCATCCGCTTCGACCACGTGATCACCAACATGAACAACAATTATGAGCCCCGCAGTGGCAAGTTCACCTGCAAGGTGCCCGGTCTCTACTACTTCACCTACCACGCCAGCTCTCGAGGGAACCTGTGCGTGAACCTCATGCGTGGCCGGGAGCGTGCACAGAAGGTGGTCACCTTCTGTGACTATGCCTACAACACCTTCCAGGTCACCACCGGTGGCATGGTCCTCAAGCTGGAGCAGGGGGAGAACGTCTTCCTGCAGGCCACCGACAAGAACTCACTACTGGGCATGGAGGGTGCCAACAGCATCTTTTCCGGGTTCCTGCTCTTTCCAGATATGGAGGCCTGACCTGTGGGCTGCTTCACATCCACCCCGGCTCCCCCTGCCAGCAACGCTCACTCTACCCCCAACACCACCCCTTGCCCAACCAATGCACACAGTAGGGCTTGGTGAATGCTGCTGAGTGAATGAGTAAATAAACTCTTCAAGGCCAAGGGACAGTGGTCTAATTCAACTCTGTGTCCCAGCACCTGGCACACCAGAAGTGCCATGCTCAGAAATGTTGGTTACATGAATGAATGAACCATGAATGAATGAAATCTCTGTCCGTGTGCTGCTCTGTGCCAGCCACACAGTGGGAGGTGGGGGTCCAGCACCAACTATGCTCCCAGTGGTAGCCTACACCTTTTCCTGATTCTCTCACTAATCCTCACACTCCTCCTGGGAGAGGGCGCATCGTGCCCAGCTTACAGAAGAGCAAACTGAGGATCAGAAGGGATGAAGGGATTGTCCACAATCTCACAGCAGGGCTGGGATTCAAGGGCAGGCCTGCCCATTGATGGCCTGAGACCTTTTTTAAAGGCAACATGTCTAGGCCAGCCCCTAAAGGGGTTCTGTGCTTGTCCCTTCCTGTTACCCCTACCAAGGATCAAGGGGTCATCCTCCAAGGCTTTAACTGACCTTGGAGCAGGAACCTTTCCCTTTCTTATTCTCCCCACATGCCCTTCCTCCCAGTATCTTCTCAGCCTAGCACAAACTCAGCCATCCAGTTAGAGTAAATGTCACTCCCCCGCTCAAAAACCTTCAGTGGCTCCCCACTGCCCACCAGATACAGTCCCAGCCCATGAACTTGGCCTTCCAGCCTCACTCTACTGGGCCTTTCTGTCTTCTAAACAAGCCCACCTCAGTGCCCTTCCTCGCACTGTTCCCTTACCTAGAAGCCTTCCACTCTGCCCATCTACCCATCCTCATTCAAGCCACACCTCCTCCCTGAAGCAGGAACACCCTAGCTCTCGCACGCTCACTCCTCTGGCCTCCTCTACCCCAGAGCGTGCACAGCCAGCATTTGGCTCCTCACCCTGTCTCCCCAGCTAGGCTGTAGCTCTGCACCCTGCTCATCTCTGAGCCAGCACAGAACCCATGATGGACAGCAGCCACTCAGTAAAGATTTATTGCCTGATTGGCTGAGACCACAGGACTAGGACTCCAGAGTCCCGCCCAGCTCTGCACCTGCTCTCCTCAGCCTCTCCTACTAGCCCCAGCATCAAGACCCTCAACCAATCCTGACCTGAGATGGGAGGGATTTAAGATAGTCCCACCCGTGTCAACCAGTCCAGCCTCCTGTTTGGCTGGCCTGTCTCTCAGGATTCCATTCATTGGGTGCAGCTTCTGCCCTATCTCCTGGGCCTGGGGCCTGGCCTTGATGACCTGCCCTAACCCCAGACTAGGTCCAACCGAGACCTAGAATCTTTTCTCCAGGAGCTGGCCCTTATTTCTGCTGCTCAACCCTTTCAATGCAAACTGCCTGGCCTTTGACTCTAATACTAATAGTTATGATAGTAATGGTCACACCACAATTGAATTACTGTGTATCTAGTGCTTTGCGCACATCAGCTCATTTAATTCCCAACCACAACCCCTAGGAGGAACATAGTATCATCCTCATGTGGTTACATGACAAAAAATATAAAACTCAGAGAGGGCAAGCAATTTGTCCAGGGTCACAGAGCTGACAGCTACACAGCCAGGTTTGGAGCCTGCTTTTGTTTGCCTCAGATTTCATCACCTCCTTGCCATCCACATCTGTTGGAACCCCTTCTGCAGCAACCCCCCTCTGCAGCCCCATGACCTCTCACCTGAACCCATCTGACCTCAGGAGTTCACATTCTCGAGCCTCTGCAGTTGGGTCCATCCTTGCTAGGCTACACTGCACCCGGAAGCAGAGCTGGCTGCTGGTGTCGAGCATGCGCAGAGCACCCCATCTTGCTGCACAGACCCAGGCAGAGCCGGGCTTGTCTGAGAAGTCAGAGCTCCACGCTCCTGCCTGCTTGTCTCGGGAGCTGCTGTCAGGCCGCCTGGCTCTT
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ATGGATGGATGGATGGATGGATGCAGATGGAGGAATAGAGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGATAGGATCACCACGGTGGTAACCTCTCACATTGTCTTCTCCACAGGAGGCGTCTGACACAGTATGATGATGAAGATCCCATGGGGCAGCATCCCAGTACTGATGTTGCTCCTGCTCCTGGGCCTAATCGATATCTCCCAGGCCCAGCTCAGCTGCACCGGGCCCCCAGCCATCCCTGGCATCCCGGGTATCCCTGGGACACCTGGCCCCGATGGCCAACCTGGGACCCCAGGGATAAAAGGAGAGAAAGGTACCATGGGATTTAGCAGGACACTGGTAATACTGACCAAATTTCCCGTCTCCTGCCTCCCAAGTCACAGTTGCCTACCTTTGAGACTGCAAAAGCACTGGCAAATCCAGCAGCTTGCTGAACCCTTGCAGTAACTTTGCAAGGAGGGAATTCTGATTCCCATTTTACAGAGAGGAAAACTAGCATCTAGAAAGTCTGCTGACTTACTCAAGGTAGCCCAGTAAATGTTGAGGCTAAGACCAGACCACGGATCTCTTACCATTAAATTCAGGTGGAGAGGGAGTGCCGCTGTGGCCACAGAGTCCTGTGTTTAAACTTACCTCCTGGGCAAATGACTTCTCTCTGAATTGCTATTTCCTCACCTGTAAGATGGGGGCAATGGTACTTTTTTGGGGTTGTCATGGGGTTCAAATGAGACTCCCAGCCTTGAAAACCCCTCTGTAAAATTTGGTTTATTCATTCATTTAACCTACCGTTATAGAGCAACTGTCTGTGCCAGTCACTCTCCTCACATAATCTCATCTAATCCTTACAATCCCACAAAATATCTTCATCCCCATTTCACAGATGAGGAGGCTGTCCTCAGGAAATGTGACTCAGTCAAGGTGACACCACTACTAATGGCAGATGTGACACGCAAAGCACATCTCTCTGTCCCCAGATCCCATCTTCTCAGGCCCTATTCTCTGCCACTCTACTGGAAAATCGGTCTTATCTTGTGTTGTGCCAAACCAAGGGGTAGTGGCTGCTTGGGGGGTGGAGTGAGAAGGAGTCTAAAGTCCATTTCCAGGAGCAGCAAGAGTGAAGGCCATGGTTGATTAGGGATGTCTGCCAGGGGTGAGGGATAGAGGGAGACAGCACTCATTATCCCTGCTCTAGCTGAAGAAGGACCCCCACACAAGCTGGGGAGGAGGGCCGGCCTAGCACCTTCCTTAGCAAGGAGCCATTCCCCTCCCCACGATCAGCAGCCCCCAAGAAGGTCAAGCATATCACAGACTCAGGAAGCTGGGCTGGAGGGAGACCCAGAGCCCCTGCCTGACACTGCCTCCTTCGTTTTACAGATGGGAGACTGAGGCTCAGAGAGAGGCAGGGCCCTGCCCAAGGTTCCAGCGCAGGCCTCCTTCTTTTGGTCTCAGTGATCTCACTTCTTTGGTCTCTGCTTTTCCAGGGCTTCCAGGGCTGGCTGGAGACCATGGTGAGTTCGGAGAGAAGGGAGACCCAGGGATTCCTGGGAATCCAGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAGGTGAATCGGGAGACTACAAGGCCACCCAGAAAATCGCCTTCTCTGCCACAAGAACCATCAACGTCCCCCTGCGCCGGGACCAGACCATCCGCTTCGACCACGTGATCACCAACATGAACAACAATTATGAGCCCCGCAGTGGCAAGTTCACCTGCAAGGTGCCCGGTCTCTACTACTTCACCTACCACGCCAGCTCTCGAGGGAACCTGTGCGTGAACCTCATGCGTGGCCGGGAGCGTGCACAGAAGGTGGTCACCTTCTGTGACTATGCCTACAACACCTTCCAGGTCACCACCGGTGGCATGGTCCTCAAGCTGGAGCAGGGGGAGAACGTCTTCCTGCAGGCCACCGACAAGAACTCACTACTGGGCATGGAGGGTGCCAACAGCATCTTTTCCAGGTTCCTGCTCTTTCCAGATATGGAGGCCTGACCTGTGGGCTGCTTCACATCCACCCCGGCTCCCCCTGCCAGCAACGCTCACTCTACCCCCAACACCACCCCTTGCCCAACCAATGCACACAGTAGGGCTTGGTGAATGCTGCTGAGTGAATGAGTAAATAAACTCTTCAAGGCCAAGGGACAGTGGTCTAATTCAACTCTGTGTCCCAGCACCTGGCACACCAGAAGTGCCATGCTCAGAAATGTTGGTTACATGAATGAATGAACCATGAATGAATGAAATCTCTGTCCGTGTGCTGCTCTGTGCCAGCCACACAGTGGGAGGTGGGGGTCCAGCACCAACTATGCTCCCAGTGGTAGCCTACACCTTTTCCTGATTCTCTCACTAATCCTCACACTCCTCCTGGGAGAGGGCGCATCGTGCCCAGCTTACAGAAGAGCAAACTGAGGATCAGAAGGGATGAAGGGATTGTCCACAATCTCACAGCAGGGCTGGGATTCAAGGGCAGGCCTGCCCATTGATGGCCTGAGACCTTTTTTAAAGGCAACATGTCTAGGCCAGCCCCTAAAGGGGTTCTGTGCTTGTCCCTTCCTGTTACCCCTACCAAGGATCAAGGGGTCATCCTCCAAGGCTTTAACTGACCTTGGAGCAGGAACCTTTCCCTTTCTTATTCTCCCCACATGCCCTTCCTCCCAGTATCTTCTCAGCCTAGCACAAACTCAGCCATCCAGTTAGAGTAAATGTCACTCCCCCGCTCAAAAACCTTCAGTGGCTCCCCACTGCCCACCAGATACAGTCCCAGCCCATGAACTTGGCCTTCCAGCCTCACTCTACTGGGCCTTTCTGTCTTCTAAACAAGCCCACCTCAGTGCCCTTCCTCGCACTGTTCCCTTACCTAGAAGCCTTCCACTCTGCCCATCTACCCATCCTCATTCAAGCCACACCTCCTCCCTGAAGCAGGAACACCCTAGCTCTCGCACGCTCACTCCTCTGGCCTCCTCTACCCCAGAGCGTGCACAGCCAGCATTTGGCTCCTCACCCTGTCTCCCCAGCTAGGCTGTAGCTCTGCACCCTGCTCATCTCTGAGCCAGCACAGAACCCATGATGGACAGCAGCCACTCAGTAAAGATTTATTGCCTGATTGGCTGAGACCACAGGACTAGGACTCCAGAGTCCCGCCCAGCTCTGCACCTGCTCTCCTCAGCCTCTCCTACTAGCCCCAGCATCAAGACCCTCAACCAATCCTGACCTGAGATGGGAGGGATTTAAGATAGTCCCACCCGTGTCAACCAGTCCAGCCTCCTGTTTGGCTGGCCTGTCTCTCAGGATTCCATTCATTGGGTGCAGCTTCTGCCCTATCTCCTGGGCCTGGGGCCTGGCCTTGATGACCTGCCCTAACCCCAGACTAGGTCCAACCGAGACCTAGAATCTTTTCTCCAGGAGCTGGCCCTTATTTCTGCTGCTCAACCCTTTCAATGCAAACTGCCTGGCCTTTGACTCTAATACTAATAGTTATGATAGTAATGGTCACACCACAATTGAATTACTGTGTATCTAGTGCTTTGCGCACATCAGCTCATTTAATTCCCAACCACAACCCCTAGGAGGAACATAGTATCATCCTCATGTGGTTACATGACAAAAAATATAAAACTCAGAGAGGGCAAGCAATTTGTCCAGGGTCACAGAGCTGACAGCTACACAGCCAGGTTTGGAGCCTGCTTTTGTTTGCCTCAGATTTCATCACCTCCTTGCCATCCACATCTGTTGGAACCCCTTCTGCAGCAACCCCCCTCTGCAGCCCCATGACCTCTCACCTGAACCCATCTGACCTCAGGAGTTCACATTCTCGAGCCTCTGCAGTTGGGTCCATCCTTGCTAGGCTACACTGCACCCGGAAGCAGAGCTGGCTGCTGGTGTCGAGCATGCGCAGAGCACCCCATCTTGCTGCACAGACCCAGGCAGAGCCGGGCTTGTCTGAGAAGTCAGAGCTCCACGCTCCTGCCTGCTTGTCTCGGGAGCTGCTGTCAGGCCGCCTGGCTCTT
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Task1_train_577
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This mutation occurs in EPHB2 (EPH receptor B2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Bleeding disorder, platelet-type, 22
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AAGATCTACATCGATCCTTTCACCTACGAGGACCCCAACGAGGCAGTGCGGGAGTTTGCCAAGGAAATTGACATCTCCTGTGTCAAAATTGAGCAGGTGATCGGAGCAGGTAGGTGGCTGGTACTCTCACATGTACTATGACCTTAGCCATGGCTGGTGAGACCACCCCAATGTATACCCTTGGGGCAGAAGGTAGGATGTGGGACAGGCGCCTCAAAGGACCCCCCAAGGCCTGAAGGTTCAGAATGACCATGAAAGAAGGGCCCTCAAAGGTCATCCAGTAAAACCACCTCACTGACAAAAGAGGAAACTGAGGCACAGGGCTGGGAGGGGACATGCACAGTGAGTCAGAGATTGAGCTGGGTCTGGAGCCCAGTTCTCTGGACTCTTGGTCCAGTGCTTTTCCTTCCTCCCCCCATGTATCCCAGTGCCTTTTCCCATCTCCCAGGTTCCCCTGCACCCTCACCCCCATGCCCAGCCAGGGATAACCAGAGAACAACCATGAGGAATTTACTGTCCTCTCCCAGAGGTGACTGGAACTTTTCTGGACCCCTGACATTCTTGAAGGGGTTCTGTGTCTGCAAGGATGAGTGGGCCATTGAGAAGAAAATGTACCTGCAGGCCCCGTGAGTGGACATGACAGGGAACAGGAAGGTGGCCCTTCCACCTGGCAAGTGACATCCTGTCTGTCTTGGTGTTTCTCTCTCAGGGGAGTTTGGCGAGGTCTGCAGTGGCCACCTGAAGCTGCCAGGCAAGAGAGAGATCTTTGTGGCCATCAAGACGCTCAAGTCGGGCTACACGGAGAAGCAGCGCCGGGACTTCCTGAGCGAAGCCTCCATCATGGGCCAGTTCGACCATCCCAACGTCATCCACCTGGAGGGTGTCGTGACCAAGAGCACACCTGTGATGATCATCACCGAGTTCATGGAGAATGGCTCCCTGGACTCCTTTCTCCGGGTAGGGGAAGCCAAGAGGGCCAGGGGCCCATGAATGGGGCAGGAAAAGGAACGATGGACATAGCTTCATACTGTCAGAGCCTGAAGGGGTCTTGGAAAAGCTCTAGGTCAGGAATGGCTTGCAGGCTGTCACTTTCCATTCCCTTATCCATGGCAGGCACTGCTAATCAATCCCAGCACTCTCATCCACTAAGCCCAGAGGCAGTCCCAGAATTCTTCTCAGTATGGTTCCCCAGGAAGCCACAATCAGTTGATCAGAGTTGGCACACATCTGAAATCTGTTTCCATTCCTGCTCTTAGCCAGCCTTCTCATTATGCACAGGAGAAAACGGGCTCAAAGAGAGGTAGGATTTGCCCAGAGTCACCCAGAGGGTCAAGATGAGGCCTGGACTGGAACCAAGTGTCTTGACCTCTCATCCAGGTTTTCACCAGATTTTGGAGTTCTCCAAAGCTCTATAGGCTGGTGGGAGGAGTTCAGAGCACAAGGCCAACAGAGGAAAGTGTATAGGCCTCCCAGGAGACCAAGTCAACCAACCAGACAAAGCACCAGACTGGACATCAGAAGCAGGCCAGTGGACCAGCTGCCATTCAGTAAATATTTGTGAAGCACCTAACATGTGCCAGGCACCTTCCATACACCTTCTTGTATAACCCAGAATAGCCCTGGGGGATGGGTGTGATTTAGGCCCATTTAACACACAGATGAGGAAACTGAGACTCAGAGGTATTAGGTCACATGTCCAAGGTTGCACAGCCGAGAAGGAACAAAGCCAGAGTCAAACCAAGCGTGTCTGCTTCAAAGCCTGTGTTCTCACCACCACTCTGAAGTTGGCCTCTGACGGGCCTCTCTGGGGTCCCAAAGCATCTGAGTCCTTCCCCAGGGGAGCCCAGAGCCAGGCTGGCAGGGCCCTGCTCTGGTTTCCCATTATGAGGATGATGCAGAGCTCTGATGCCTGCTCTTCTGTTTACTCTGTGTTTTCCCCACTTCTCCCAAAGCAAAACGATGGGCAGTTCACAGTCATCCAGCTGGTGGGCATGCTTCGGGGCATCGCAGCTGGCATGAAGTACCTGGCAGACATGAACTATGTTCACCGTGACCTGGCTGCCCGCAACATCCTCGTCAACAGCAACCTGGTCTGCAAGGTGTCGGACTTTGGGCTCTCACGCTTTCTAGAGGACGATACCTCAGACCCCACCTACACCAGTGCCCTGGTAAGATGGAGGCAGGGAACACCGGAGTCACAGAGCCAGAGAAGAGGGCATGAGTGTCCATCTCTCCCTGCAAGACACTTTCACTAACGCCCAATTGGGCCAAGCACTGTCCTGGGCCCTGGAGACAGGAAGACAGGAACCACAGCTCCTGCCCTCTTGCAATTCCCACACTGGTGGGGAACAAATGTGCAGAGCCATGTGGAGTGACAGGGCTGTAAGCCAGGACAGCCAGCCTTGGAGGCAGAGGAAGGCTTGCTAGAGAGGTTGATATCTGAGCTGAGAGCAGAAGGGCCCGGAAACGTTTGTCAGATGCCATGTTCTCATGGCAAAGTCCTGTGACAGGAATACAGGCTGTAGGGGCAGTGGTAGTGAGCAGTCACGCTGGAGAGGTAGACAGGGCTGGACCTTGGAGCTCCTGGAATGCCCAGGTTCAGGACTCTCTCCTGAAAGCAGCAAGGGTTGTTGAAGGTTTAAACTGAAAGGACAAAGAGCCCAGAGATGGGTGCAAGTAGGCAAGTCACTTGAGTACTGTGCCATGTGAGACATGCCTCCTTGATGGGGAGACATAAGGCACAGCTGTGGGATTGAGGGCAGCTGACAATTCTTTGGGAGCTCAGAAAGGCTTTTGGAGGGACTTGAGGATGAGAAGGAGGTTTCCAGATGGCAGAGTGGGAAAAGGCACTTCATGCAGAGGGCGCAAATGCCCAGTGGTCTGAAGCTGCATGGTAAGTTTGGGGCACAATGAGGTGCCTCATGAGATTGGGGCATCACAGGGCACAGGGTGGGAGGATTAAGAGAAGAGGTCAGACAGGCCAGCCTCCCACCCACAAACCCTCCTCTTTCTGTCTCCCAGGGCGGAAAGATCCCCATCCGCTGGACAGCCCCGGAAGCCATCCAGTACCGGAAGTTCACCTCGGCCAGTGATGTGTGGAGCTACGGCATTGTCATGTGGGAGGTGATGTCCTATGGGGAGCGGCCCTACTGGGACATGACCAACCAGGATGTAAGTCTCCAAGGGGATAGGCAAGGCCTCTCTGGCCCACCAGATGGGAGAGGGAAGATCGGGGCTCCTGGCCTTGTGCCAGTCTCCCAGAGTGTGGGACATAGGCTTCTGAGATCATGGGCCTGGCTCCCAGGGCAGCTGCCAGCCCAATGGTGGCTGATTCGAATGTCTGCACAGGACTCTGGACTCTCCAGGGGGTAGGAAGTAGGAAAGGCCACCCATCCACACATCAGCACGTCTTCAGGACGCATGCACCTGTGGCCAGCCCCAAATGAGACCACATCTGCCCTTCAGGTGTTCACCACCTAACTGGGGGACAAGACGATTATTCAGGGAACCAGATGTTATGATCAGGAGCTTTTACGATCAGGTGCTAAATCAGAGTAGCCTGGAGGCACTGAGGCACCGGCAGCATGGGCAAGATCAGCCAGGAAGTGATCGCAGGACAAGTGGGGTTCGAAAGGTCGCAGGACATGGAGACTTGAGGGCTTCCAGTGGGAAAGAACAGTGTGTGCAAAGGCTGGGGTTGGCTAATGCGGGGTTGAAGCCAAACCAAGGGATCTCCATTAGCAAAAATGAAGACAGGAAGGACTCGAAGAAACTTCTTACACAGGGAGGGTGACCCACAGTTGAGCTGTGGAAGGTGAATCTGGCCATGGTGGCAGGACAGGCTGAGAGGGGTGTTTGGATGCATTTCCTTGACAGAGAAGCAGGTGGAGATGGTGGGAGGGAGCCCCAGCCAGGCTTGAGGCCATGGTGTGGGCCTGATAGAGGGAGGTATCTCACACCTGGAGCTGTAAATGGCACTAAAATCAAGCATGTGGCCATGTGGGGTCAAGCAAGGAGGCAGACTGGGGAGGCCTTGGGGTCATCCAAGCCAAGAGGGGGCTCACAGGATGGGAGGAGCTGGTGGAACCAGGCACAG
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AAGATCTACATCGATCCTTTCACCTACGAGGACCCCAACGAGGCAGTGCGGGAGTTTGCCAAGGAAATTGACATCTCCTGTGTCAAAATTGAGCAGGTGATCGGAGCAGGTAGGTGGCTGGTACTCTCACATGTACTATGACCTTAGCCATGGCTGGTGAGACCACCCCAATGTATACCCTTGGGGCAGAAGGTAGGATGTGGGACAGGCGCCTCAAAGGACCCCCCAAGGCCTGAAGGTTCAGAATGACCATGAAAGAAGGGCCCTCAAAGGTCATCCAGTAAAACCACCTCACTGACAAAAGAGGAAACTGAGGCACAGGGCTGGGAGGGGACATGCACAGTGAGTCAGAGATTGAGCTGGGTCTGGAGCCCAGTTCTCTGGACTCTTGGTCCAGTGCTTTTCCTTCCTCCCCCCATGTATCCCAGTGCCTTTTCCCATCTCCCAGGTTCCCCTGCACCCTCACCCCCATGCCCAGCCAGGGATAACCAGAGAACAACCATGAGGAATTTACTGTCCTCTCCCAGAGGTGACTGGAACTTTTCTGGACCCCTGACATTCTTGAAGGGGTTCTGTGTCTGCAAGGATGAGTGGGCCATTGAGAAGAAAATGTACCTGCAGGCCCCGTGAGTGGACATGACAGGGAACAGGAAGGTGGCCCTTCCACCTGGCAAGTGACATCCTGTCTGTCTTGGTGTTTCTCTCTCAGGGGAGTTTGGCGAGGTCTGCAGTGGCCACCTGAAGCTGCCAGGCAAGAGAGAGATCTTTGTGGCCATCAAGACGCTCAAGTCGGGCTACACGGAGAAGCAGCGCCGGGACTTCCTGAGCGAAGCCTCCATCATGGGCCAGTTCGACCATCCCAACGTCATCCACCTGGAGGGTGTCGTGACCAAGAGCACACCTGTGATGATCATCACCGAGTTCATGGAGAATGGCTCCCTGGACTCCTTTCTCCGGGTAGGGGAAGCCAAGAGGGCCAGGGGCCCATGAATGGGGCAGGAAAAGGAACGATGGACATAGCTTCATACTGTCAGAGCCTGAAGGGGTCTTGGAAAAGCTCTAGGTCAGGAATGGCTTGCAGGCTGTCACTTTCCATTCCCTTATCCATGGCAGGCACTGCTAATCAATCCCAGCACTCTCATCCACTAAGCCCAGAGGCAGTCCCAGAATTCTTCTCAGTATGGTTCCCCAGGAAGCCACAATCAGTTGATCAGAGTTGGCACACATCTGAAATCTGTTTCCATTCCTGCTCTTAGCCAGCCTTCTCATTATGCACAGGAGAAAACGGGCTCAAAGAGAGGTAGGATTTGCCCAGAGTCACCCAGAGGGTCAAGATGAGGCCTGGACTGGAACCAAGTGTCTTGACCTCTCATCCAGGTTTTCACCAGATTTTGGAGTTCTCCAAAGCTCTATAGGCTGGTGGGAGGAGTTCAGAGCACAAGGCCAACAGAGGAAAGTGTATAGGCCTCCCAGGAGACCAAGTCAACCAACCAGACAAAGCACCAGACTGGACATCAGAAGCAGGCCAGTGGACCAGCTGCCATTCAGTAAATATTTGTGAAGCACCTAACATGTGCCAGGCACCTTCCATACACCTTCTTGTATAACCCAGAATAGCCCTGGGGGATGGGTGTGATTTAGGCCCATTTAACACACAGATGAGGAAACTGAGACTCAGAGGTATTAGGTCACATGTCCAAGGTTGCACAGCCGAGAAGGAACAAAGCCAGAGTCAAACCAAGCGTGTCTGCTTCAAAGCCTGTGTTCTCACCACCACTCTGAAGTTGGCCTCTGACGGGCCTCTCTGGGGTCCCAAAGCATCTGAGTCCTTCCCCAGGGGAGCCCAGAGCCAGGCTGGCAGGGCCCTGCTCTGGTTTCCCATTATGAGGATGATGCAGAGCTCTGATGCCTGCTCTTCTGTTTACTCTGTGTTTTCCCCACTTCTCCCAAAGCAAAACGATGGGCAGTTCACAGTCATCCAGCTGGTGGGCATGCTTCGGGGCATCGCAGCTGGCATGAAGTACCTGGCAGACATGAACTATGTTCACTGTGACCTGGCTGCCCGCAACATCCTCGTCAACAGCAACCTGGTCTGCAAGGTGTCGGACTTTGGGCTCTCACGCTTTCTAGAGGACGATACCTCAGACCCCACCTACACCAGTGCCCTGGTAAGATGGAGGCAGGGAACACCGGAGTCACAGAGCCAGAGAAGAGGGCATGAGTGTCCATCTCTCCCTGCAAGACACTTTCACTAACGCCCAATTGGGCCAAGCACTGTCCTGGGCCCTGGAGACAGGAAGACAGGAACCACAGCTCCTGCCCTCTTGCAATTCCCACACTGGTGGGGAACAAATGTGCAGAGCCATGTGGAGTGACAGGGCTGTAAGCCAGGACAGCCAGCCTTGGAGGCAGAGGAAGGCTTGCTAGAGAGGTTGATATCTGAGCTGAGAGCAGAAGGGCCCGGAAACGTTTGTCAGATGCCATGTTCTCATGGCAAAGTCCTGTGACAGGAATACAGGCTGTAGGGGCAGTGGTAGTGAGCAGTCACGCTGGAGAGGTAGACAGGGCTGGACCTTGGAGCTCCTGGAATGCCCAGGTTCAGGACTCTCTCCTGAAAGCAGCAAGGGTTGTTGAAGGTTTAAACTGAAAGGACAAAGAGCCCAGAGATGGGTGCAAGTAGGCAAGTCACTTGAGTACTGTGCCATGTGAGACATGCCTCCTTGATGGGGAGACATAAGGCACAGCTGTGGGATTGAGGGCAGCTGACAATTCTTTGGGAGCTCAGAAAGGCTTTTGGAGGGACTTGAGGATGAGAAGGAGGTTTCCAGATGGCAGAGTGGGAAAAGGCACTTCATGCAGAGGGCGCAAATGCCCAGTGGTCTGAAGCTGCATGGTAAGTTTGGGGCACAATGAGGTGCCTCATGAGATTGGGGCATCACAGGGCACAGGGTGGGAGGATTAAGAGAAGAGGTCAGACAGGCCAGCCTCCCACCCACAAACCCTCCTCTTTCTGTCTCCCAGGGCGGAAAGATCCCCATCCGCTGGACAGCCCCGGAAGCCATCCAGTACCGGAAGTTCACCTCGGCCAGTGATGTGTGGAGCTACGGCATTGTCATGTGGGAGGTGATGTCCTATGGGGAGCGGCCCTACTGGGACATGACCAACCAGGATGTAAGTCTCCAAGGGGATAGGCAAGGCCTCTCTGGCCCACCAGATGGGAGAGGGAAGATCGGGGCTCCTGGCCTTGTGCCAGTCTCCCAGAGTGTGGGACATAGGCTTCTGAGATCATGGGCCTGGCTCCCAGGGCAGCTGCCAGCCCAATGGTGGCTGATTCGAATGTCTGCACAGGACTCTGGACTCTCCAGGGGGTAGGAAGTAGGAAAGGCCACCCATCCACACATCAGCACGTCTTCAGGACGCATGCACCTGTGGCCAGCCCCAAATGAGACCACATCTGCCCTTCAGGTGTTCACCACCTAACTGGGGGACAAGACGATTATTCAGGGAACCAGATGTTATGATCAGGAGCTTTTACGATCAGGTGCTAAATCAGAGTAGCCTGGAGGCACTGAGGCACCGGCAGCATGGGCAAGATCAGCCAGGAAGTGATCGCAGGACAAGTGGGGTTCGAAAGGTCGCAGGACATGGAGACTTGAGGGCTTCCAGTGGGAAAGAACAGTGTGTGCAAAGGCTGGGGTTGGCTAATGCGGGGTTGAAGCCAAACCAAGGGATCTCCATTAGCAAAAATGAAGACAGGAAGGACTCGAAGAAACTTCTTACACAGGGAGGGTGACCCACAGTTGAGCTGTGGAAGGTGAATCTGGCCATGGTGGCAGGACAGGCTGAGAGGGGTGTTTGGATGCATTTCCTTGACAGAGAAGCAGGTGGAGATGGTGGGAGGGAGCCCCAGCCAGGCTTGAGGCCATGGTGTGGGCCTGATAGAGGGAGGTATCTCACACCTGGAGCTGTAAATGGCACTAAAATCAAGCATGTGGCCATGTGGGGTCAAGCAAGGAGGCAGACTGGGGAGGCCTTGGGGTCATCCAAGCCAAGAGGGGGCTCACAGGATGGGAGGAGCTGGTGGAACCAGGCACAG
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Task1_train_578
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A variant was discovered on Chromosome 1, affecting KDM1A (lysine demethylase 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
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CATCCAGTTGACACTGGAAGAGCTTTAATCTGTACCATTTGCACACTTGTGTTTGACACATTCTGCCCTATTGTAGAGGCATATGTGATCTAGTAGTCCCTCTTGGCTGCTATAGCATCCTCTTGCTAGGCATTTTAGAAGCAACACATAGAAATATCACTTTTATACTCCAGGAAAAGCAGTCAGGCGCATTGCATCTGTGATCAGTTAAGGTCTCATAACTACCTAGATTTCACATTGAAATGTAATTGTTTCTCCTTTTTGAAAGAAAAACCAAATTTAGATTTCCAGAACCATCTTTTGTAGCATCATTGCAGGATTTGCACTAGAAGTAGCATGTTTCTGAGCAAAATTTCAGCATTGTTTGAGTTGCTCTGCATATGACCATCACATATCACATCAGTGAGGAAAAGTAGCTGAGAAAGTAAATGAAATTCCTGACCAAAGGGTCTCTTCCATCAGCTCTCATAGCTGTGTAATAAGAACAAGCTCTTTTTTTGGCCATTGAGTTGAATGAGTAGTAGATCACAGGTTTTTGATCTACCAGTCTTAGGTACCTTCCTGATATAAATGGCACCAAGTATCTGAAGCCTGATTCTCTGCCTCATTTAACACAAACCAGAATATTTTTAGAGATTTAGATTTTCTTTAGGCTAAGGGTAATTCTTTAATTATAAAGATACCCTGATCCCTCCCATGTATAGTCTTTGGGAACTTACTGTTTGAATATGATTTTTAAATCAGTTATGGTATCTGTCATATTTACAGTTCAAAGGAGAGTTGCAGTCCTCTTTCTTTTTGGGGGCAGATTGCCCTTCTTGCCAGATTCTTTCTGCCACACACTGGCTCATCTCGTAGTGTTACTTGTGTTATCAGTGAAGGAGCAGAGGCCAGGGTTCAAAATCGTCTGTTGGGTTGGGAAGTGGAAAAACTGTGGAGTTTCAAATGAGAGGTAGAATCTTACTGGGATGGTCTTGTCAACAGTCAGTTACCTCTGATTGTAAAAGGTCGCTCCTCCTGAGTCTTAGTGTTTACTAGAATTTGCTTCAATGTTTTATTTTTGTGTTACCAGTTTTAGGTTGACTGTATAATGAAATTCTGTATTTTGAATCACATTTCCCTGCTGATATCAGCCCAGCTTATAACAAGTAATGCTTGCCTTAAACATATTTTTTCTTTCTCTCACTTCTGCCATCAATTCAACAATAGGATTGCAGATACAGTTTACTTTGGGGCTGAATTAAGCAGTAGCAGAGGGGTGTTTGTAAACTAACTGATGTTATCAATAGGCAGGGACACAGCATGGCTTAGGATCATGGTCTTCCAGCTTGATGACCTGCTTTGCAATCTGTTTGCTTCATCCACATCAATGAGGAGCCAGACCTTCTGGTCCTTCATTTACTCATAGACTCTCTTAAGAGCTTTGTACATTCAATTCTGAACTTATTGGTGCCATAAAATATTATTACTGTGCAAAAGAATAAAAGTGCTAGTGTGTTCTTATTAGTAGCCATGAATTTCATTTCTCTTTTCCCTCTTCCCACCTGAGATTCATCTTTGAGGGGAAGCCAGATACCTTGGGCTTCTTATTTTCCCATCCTGCCCTTATTCTTGGAAGGTCCTCAGGTTTGTTGACATGGTTTTTGTTCTCTGGGACTTTTCTAGTGTGTTGTTTGCATGTCAGCCAGCTCAACTTAATGCATGTCAGCTCAGTGCCACTTGTGCTCCATGTGACTTCAGTTAGCACCAGTGTAAATCTTGTGGCTGTTAATAGAGGTGGAGTCCCAGCTCTGACGGCAGTAGTGGGAGAAGAAGAGGAAATTGTCAGGGCCCAAACATTTCATATCTCATTTAAATGGATCTGACCACTTCATAGAAAAGAAAATTTGAATCATTGTGCTCAAAGGTTTCCCCTTTGAGATACATATTTTGACCTTTATAAACTATAGAGCATTTGTGTTTTCATGGATGGTTATGTTTAGTTTTATAAGGACCAACTCTGCTATACTTCGGATTTTCAGGTTCCTAAAGAGAAAGATGAAATGGTAGAGCAAGAGTTTAACCGGTTGCTAGAAGCTACATCTTACCTTAGTCATCAACTAGACTTCAATGTCCTCAATAATAAGCCTGTGTCCCTTGGCCAGGCATTGGAAGTTGTCATTCAGTAAGTACTTTGATACTGCTTATTGTATAGTGAGTTCCATGTGTAAAGATTTGCTATTTATGTTTTAAGTTTTTCTGCAAGTCTTGTTTGAGGTAGTTTTTACTTAATTTTGTATGAAACCATTGAATCCAAAGTTAAAAATTATTTAAAATAATTATATGATCCCTTAAGGCCCCTTTCACTTCTAAAATTCAGTGCTTTTATGGTATTATACTATATTTAACATAGCCTAGGAAATAATTTCCAACTAGCCAACTTTCTTGTTCCTAAGTATCAGAAGTTTCAGTGGGCCTTGATGCCCTTAAATGTTTTTGATGGGCACCTGTCTTATTCTGCAAAGTTGGCTTTGAGAGCAGATTATACATATTGTCTCTCTTAGGTTACAAGAGAAGCATGTCAAAGATGAGCAGATTGAACATTGGAAGAAGATAGTGAAAACTCAGGAAGAATTGAAAGAACTTCTTAATAAGGTGAAATTCTGTATTTTCTTCATAGCTGAAGAAGCTTTAATAGGAGAAAAAGTCTTTAGAAATTTTAAAAGCATTTCCGAGATTTTTTCCTCCATGGAAGAGAAAGTCTGCACAGCTGGGACTCATTCTTAAGAAAATAATGACTAACGAAAGAGACTGTTTTATCTGTCAGTCTTTCAGTGTGGCATTATTGATAAATGGTTGCCAGAGGAAATAGATCTTTCCTCTTTGTCTGGTTCCCTTTGGCTCAGGGGTGTCCAGTCTTTTGGCCTCCCTCAGTCACATTGGAAGAAGAAGAATTGTCTTGGGCAACACATAAAATACACTAACACTAATGATAGCTAATGAGCTTAAAAAAAATGGAAAAGAAAATTCAGTGTTTTGAGAAAATTTATGAATTTGTGTTGGGCCGCATTCAAAACTGTCCTGGGCCACGAGTTGGACAAGCGTGGTTTAGCTATTCTAAAGCTATCCCAGTGCCCTCAGCTGAATTCTAGGACTAGCAGGAGAATTAGCTGTACTGGAGCCAAGTTTTCATTGGTGAAGACCAACAAATCAGCAGCCAGTTCATTGGCATAATTATTTCTCTTGAGTTGCTGCCACCCCCACCTCTGTTCCCCAGGGCTGAACCGTTAGGGCTCTTCTCTGCCACCGCCTTCCAGAGCCCCAGGCTCCAGCGCATTAAAGTCCAACCATTTGCTTCTCCTCACCCTGCCAGCTGCAAAGGTCGCATCAGCTTAGGGAGAAAATAGCCCCTGGAGGGGGCCTTTATAGTGCATACTCTGGGTGTGCCTGTGACTGGACTCTTGCCTCACTCTCACTGTGCCTCATTCTTCATCCTGTCTAATGAAGAGATCTCCAGCTCACAGTCTTCATGGATTGTGGTAAGGATGAAATGAGAAGAGTGATTTAAGAACTGCCAAGTGGCCAGGATACCTGTAGGGTGGCCCAGTCTCAGGCTTTGTCACTCTTGTCCTGTGTGGTATCATCAGAAACCTGAAAAAAGCTAACATTAACAATGGTTCCTTAAGATTCTTTGGCCAGGCACAGTGGCTTATGCCTATAATCCCAACACTTTGAGAGGCTGAGGCAGGTGGATCATTTGAGGTCAAGAGCTCGAGATCAGCCTGGCCAAATGGTGAAACCCCTTCTCTACTAAAATACAAAAAATTTGCTGGGCATGGTAGCACACACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCATGAGAATCATTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCTAGCCTGGGTGACAGAACAAGACTGTGTCTCTTAGAAAAAAAAAAAAAATTCTTTGACCTTTTACATATTTAAAAAACACATTATAGGACCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATT
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CATCCAGTTGACACTGGAAGAGCTTTAATCTGTACCATTTGCACACTTGTGTTTGACACATTCTGCCCTATTGTAGAGGCATATGTGATCTAGTAGTCCCTCTTGGCTGCTATAGCATCCTCTTGCTAGGCATTTTAGAAGCAACACATAGAAATATCACTTTTATACTCCAGGAAAAGCAGTCAGGCGCATTGCATCTGTGATCAGTTAAGGTCTCATAACTACCTAGATTTCACATTGAAATGTAATTGTTTCTCCTTTTTGAAAGAAAAACCAAATTTAGATTTCCAGAACCATCTTTTGTAGCATCATTGCAGGATTTGCACTAGAAGTAGCATGTTTCTGAGCAAAATTTCAGCATTGTTTGAGTTGCTCTGCATATGACCATCACATATCACATCAGTGAGGAAAAGTAGCTGAGAAAGTAAATGAAATTCCTGACCAAAGGGTCTCTTCCATCAGCTCTCATAGCTGTGTAATAAGAACAAGCTCTTTTTTTGGCCATTGAGTTGAATGAGTAGTAGATCACAGGTTTTTGATCTACCAGTCTTAGGTACCTTCCTGATATAAATGGCACCAAGTATCTGAAGCCTGATTCTCTGCCTCATTTAACACAAACCAGAATATTTTTAGAGATTTAGATTTTCTTTAGGCTAAGGGTAATTCTTTAATTATAAAGATACCCTGATCCCTCCCATGTATAGTCTTTGGGAACTTACTGTTTGAATATGATTTTTAAATCAGTTATGGTATCTGTCATATTTACAGTTCAAAGGAGAGTTGCAGTCCTCTTTCTTTTTGGGGGCAGATTGCCCTTCTTGCCAGATTCTTTCTGCCACACACTGGCTCATCTCGTAGTGTTACTTGTGTTATCAGTGAAGGAGCAGAGGCCAGGGTTCAAAATCGTCTGTTGGGTTGGGAAGTGGAAAAACTGTGGAGTTTCAAATGAGAGGTAGAATCTTACTGGGATGGTCTTGTCAACAGTCAGTTACCTCTGATTGTAAAAGGTCGCTCCTCCTGAGTCTTAGTGTTTACTAGAATTTGCTTCAATGTTTTATTTTTGTGTTACCAGTTTTAGGTTGACTGTATAATGAAATTCTGTATTTTGAATCACATTTCCCTGCTGATATCAGCCCAGCTTATAACAAGTAATGCTTGCCTTAAACATATTTTTTCTTTCTCTCACTTCTGCCATCAATTCAACAATAGGATTGCAGATACAGTTTACTTTGGGGCTGAATTAAGCAGTAGCAGAGGGGTGTTTGTAAACTAACTGATGTTATCAATAGGCAGGGACACAGCATGGCTTAGGATCATGGTCTTCCAGCTTGATGACCTGCTTTGCAATCTGTTTGCTTCATCCACATCAATGAGGAGCCAGACCTTCTGGTCCTTCATTTACTCATAGACTCTCTTAAGAGCTTTGTACATTCAATTCTGAACTTATTGGTGCCATAAAATATTATTACTGTGCAAAAGAATAAAAGTGCTAGTGTGTTCTTATTAGTAGCCATGAATTTCATTTCTCTTTTCCCTCTTCCCACCTGAGATTCATCTTTGAGGGGAAGCCAGATACCTTGGGCTTCTTATTTTCCCATCCTGCCCTTATTCTTGGAAGGTCCTCAGGTTTGTTGACATGGTTTTTGTTCTCTGGGACTTTTCTAGTGTGTTGTTTGCATGTCAGCCAGCTCAACTTAATGCATGTCAGCTCAGTGCCACTTGTGCTCCATGTGACTTCAGTTAGCACCAGTGTAAATCTTGTGGCTGTTAATAGAGGTGGAGTCCCAGCTCTGACGGCAGTAGTGGGAGAAGAAGAGGAAATTGTCAGGGCCCAAACATTTCATATCTCATTTAAATGGATCTGACCACTTCATAGAAAAGAAAATTTGAATCATTGTGCTCAAAGGTTTCCCCTTTGAGATACATATTTTGACCTTTATAAACTATAGAGCATTTGTGTTTTCATGGATGGTTATGTTTAGTTTTATAAGGACCAACTCTGCTATACTTCGGATTTTCAGGTTCCTAAAGAGAAAGATGAAATGGTAAAGCAAGAGTTTAACCGGTTGCTAGAAGCTACATCTTACCTTAGTCATCAACTAGACTTCAATGTCCTCAATAATAAGCCTGTGTCCCTTGGCCAGGCATTGGAAGTTGTCATTCAGTAAGTACTTTGATACTGCTTATTGTATAGTGAGTTCCATGTGTAAAGATTTGCTATTTATGTTTTAAGTTTTTCTGCAAGTCTTGTTTGAGGTAGTTTTTACTTAATTTTGTATGAAACCATTGAATCCAAAGTTAAAAATTATTTAAAATAATTATATGATCCCTTAAGGCCCCTTTCACTTCTAAAATTCAGTGCTTTTATGGTATTATACTATATTTAACATAGCCTAGGAAATAATTTCCAACTAGCCAACTTTCTTGTTCCTAAGTATCAGAAGTTTCAGTGGGCCTTGATGCCCTTAAATGTTTTTGATGGGCACCTGTCTTATTCTGCAAAGTTGGCTTTGAGAGCAGATTATACATATTGTCTCTCTTAGGTTACAAGAGAAGCATGTCAAAGATGAGCAGATTGAACATTGGAAGAAGATAGTGAAAACTCAGGAAGAATTGAAAGAACTTCTTAATAAGGTGAAATTCTGTATTTTCTTCATAGCTGAAGAAGCTTTAATAGGAGAAAAAGTCTTTAGAAATTTTAAAAGCATTTCCGAGATTTTTTCCTCCATGGAAGAGAAAGTCTGCACAGCTGGGACTCATTCTTAAGAAAATAATGACTAACGAAAGAGACTGTTTTATCTGTCAGTCTTTCAGTGTGGCATTATTGATAAATGGTTGCCAGAGGAAATAGATCTTTCCTCTTTGTCTGGTTCCCTTTGGCTCAGGGGTGTCCAGTCTTTTGGCCTCCCTCAGTCACATTGGAAGAAGAAGAATTGTCTTGGGCAACACATAAAATACACTAACACTAATGATAGCTAATGAGCTTAAAAAAAATGGAAAAGAAAATTCAGTGTTTTGAGAAAATTTATGAATTTGTGTTGGGCCGCATTCAAAACTGTCCTGGGCCACGAGTTGGACAAGCGTGGTTTAGCTATTCTAAAGCTATCCCAGTGCCCTCAGCTGAATTCTAGGACTAGCAGGAGAATTAGCTGTACTGGAGCCAAGTTTTCATTGGTGAAGACCAACAAATCAGCAGCCAGTTCATTGGCATAATTATTTCTCTTGAGTTGCTGCCACCCCCACCTCTGTTCCCCAGGGCTGAACCGTTAGGGCTCTTCTCTGCCACCGCCTTCCAGAGCCCCAGGCTCCAGCGCATTAAAGTCCAACCATTTGCTTCTCCTCACCCTGCCAGCTGCAAAGGTCGCATCAGCTTAGGGAGAAAATAGCCCCTGGAGGGGGCCTTTATAGTGCATACTCTGGGTGTGCCTGTGACTGGACTCTTGCCTCACTCTCACTGTGCCTCATTCTTCATCCTGTCTAATGAAGAGATCTCCAGCTCACAGTCTTCATGGATTGTGGTAAGGATGAAATGAGAAGAGTGATTTAAGAACTGCCAAGTGGCCAGGATACCTGTAGGGTGGCCCAGTCTCAGGCTTTGTCACTCTTGTCCTGTGTGGTATCATCAGAAACCTGAAAAAAGCTAACATTAACAATGGTTCCTTAAGATTCTTTGGCCAGGCACAGTGGCTTATGCCTATAATCCCAACACTTTGAGAGGCTGAGGCAGGTGGATCATTTGAGGTCAAGAGCTCGAGATCAGCCTGGCCAAATGGTGAAACCCCTTCTCTACTAAAATACAAAAAATTTGCTGGGCATGGTAGCACACACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCATGAGAATCATTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCTAGCCTGGGTGACAGAACAAGACTGTGTCTCTTAGAAAAAAAAAAAAAATTCTTTGACCTTTTACATATTTAAAAAACACATTATAGGACCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATT
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Task1_train_579
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Here is a mutation in KDM1A (lysine demethylase 1A) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
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GCAGGGCTATACCATCTTTTCTTAAATTTCAGTGTGATTTACTCTTCAAGTGAGAAATCACAAGGCTTCTTGGACCAATCTCTAAATCTGAGACTTTGGCCAGAATTAAGACTGTATAGGCTGGGTACGGTGGCTCACGCCTTTTTAAACCCAGCACTTTGGGAGGCCAGAGCAGGAGGATCAATTGAGTCAGGAGTTCAAGACCAGCCTGGCCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCGGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTATAGAAGTAAATTATTAAATTTTTATTTATATATTTTAGTTTACATTATACATTTTCCTAATAAAAATTATTTTGACAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCGTGGTGGCGCATGCCTGTAGTCTCAGCTGCTTGGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTGCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAATTATTTTGACTTCTTAATCTTTAGATTATAATCTGATAGTTTTAGTATTTGAAGAGTTGGACTTGTTAGAGATAAAGTCTTGCAGAACTACCAGTTCCTTTGTGGTTTTTCATGTAAATACTAACTTAGGCCCTTCTAGTCATTGATTTATCATTTGATGTTTCAATATGTGTCTATTTGTAATAGTATTAAATTTTAAATGAGTGATTTCAGCTGAAGTAGAGTGTTGCTGCCAGCCCAGTATTTTGATCTAATTTCCCCAAGAATTTCATGAAATTAGAAATCCTTACCAGCTTACAAAAAAAATGTTACATAGAAAAATTTTCAGTAAATTCAAAGAAGTAAGATCATTTTGGGGATCTTTAAATTCCTGGTCAATTCCTGACTTTTTTTTTACTGTATGGACTGTCTTGGGCCACTCTTTATGGTCCTAGATTACCTTCATCTAGTTTGACTGACTTAGTTTTGGAAATCTTCCTCAACTTCAAACCTGTAAATTTAAAGAATAAAAACTGATTTTGCTCTCAGGTAAAAGAAAATGTAATCAGGACTGTGACCCTGATATCCTTCAAGTCTGTAATGTATTCAAAAGCCAGATAAATAAACTTGAATGATGTTTAATCATCTGAATTTCCTGAATCATCATTCCCCCTACCACCTCCCTACCCTAACCACCATAGAAGATCCGGACTTAGTGGTATTGGACTGGAATGATAAAAACTATCCAGGGAAGGCCGAGCGTGGTGGCTCATGCCTGTAATACCAGCACTTTAGGAGGCTGAGGTGGGTGGGTCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCGGGGTGTGGTGGTACATGCCTGTAATCCCAGCAGTTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGTCCGAGGTTGCAATGAGCCGAGAGCACGCCACTGCACTCCAGCCTGGATGACAAAGCAAGACTCTGTATCAAAAAAAAAAAAAAATCCAGGGACAAAAGAAACTTCCCTAATCTCACTACCCGAAGATTTAGGGACATTTTTTGGTGTTTTCTCTTTTTCCTTCAGTTTCCTTTGGTAACTGTAGCTAAATACTGAGTGATTTGTTCTTTAGTTTGCCTTAAAATATTGACTGTTTCCACAAGCTTGTGTTTTCATTGTTGTTGTACAGAACTAGGTGCAAATGACACAGATTAATAAAAGGTTGGAAATATGTTCTTTTCTCTCCTCTTTAGGATGATGACTTTGAGTTCACTGGCAGCCACCTGACAGTAAGGAATGGCTACTCGTGTGTGCCTGTGGCTTTAGCAGAAGGCCTAGACATTAAACTGAATACAGCAGTGCGACAGGTTCGCTACACGGCTTCAGGTATGTCACTGCTTTACAAAAGGTAAGAGAGAACTCTCCTGAAACAGGACTGATCTTTTGTTAGGTGCGACCTATCAGGTACATTTCCTGATAGAGTGTTTATGACACCATAGGTAAAAATTGGCATTTATAGACAGTTGAGCCTATAGAGTCTTTGGTGGTTCTAACCCTATCATTTTATAAACTGGGAAATCGAAGCAAGTTTTAGAGTTTCCAATTTGTGCATGAGCTAGTTGGATATTACTGGTCGAGCATCCCTAATCTGAAAATCTGAAATCTCTAATGCCCCAGTGAGCATTTCCTTTGAGCACCATGTCAGTGCTCAAAAAGTTTTCCATTTTGGTGACCCAGTGAGTTTGGATCTAGTTTTGTTAAGTATATTCATAAATACCAGGATTTTGGCCCCTGGGCTCCACTAGGACCCACCCCTTATATTTCACCATCCGCATTTTGGTCTTTGGATTCATTTTGGCTTTTTCTATGCATTTGGGCTAATTCGCTTACGTTTGGTTCCTAGTTCTGGAGCAGTCCTGCTAATAAGTTGACTTCTTCAGAGATAGAGTTTCCCTGTGCTTGCTATGGGGATAGGCTCAATGCTCATTATTATTGCTGGTTTCAGGCTACATTTGATGTAAAGTGCAGACAACTGTTGGATTTTGAACTCCTCAAGATAACTAGTCATCTCCCTCTCTGAGAACCCATGTATGACTATGTAGGCATGAGAAATGGAGACATAGCCATCAATCTTACCCTGCGCTGCCCCTTTCCTTGGAGTTACTGAGATCACCACAGATGTTTTGGTTTTTTACTAACAATCAGTGAAACAGTTTTCCATTTAATTTTCCCATCAGAGGCAGCTTGTAGTTGACAGTGCTGAGAAGATCTGCAGCCTTGAGCCTTTTGCAGGCAGACGGAGAACAGTGAGAATAGATGTTGTGCCATTTTCTCGAGTTCTGCAGCCATAGAAAATGAGCATGTACTGAGCTTTCATATTTATTTTGAGATATATAATTTCAAAATATATATAGTATATAAACAGACATTCATTAAAAAACAAACGAGGAAAACGATGTTAACATAATTTCAGTACCCTCTCTGAGGTCAGCTTTGAACTCATTCATACTCTGACAAGCTGAGAATCACTGTGCATTCTCAAGCATAGCACGCTCCACAGTTTTAGGCTGCATCCCCCAGATCTGCATCACAGCCTTCTTGTAGCATTCTTCTGTTGGTCGATAGTGAGCAGCTAACCACAGTCAGAAGACATTGGTTCTATTGGGATGAGCACTTTATTCTTTATTTTTGGTCTAAATGTACTTAACTTGAGTAAGTGGTATAAGGTCCTTTCATTAGTCTAGATCACCAGTGTATCAGGAGGGTAGTGTGGGGATGACAGTTGAGGATTCTGAAGTTGACTACAAGGGTTTGAATCCTGGCACTTATTACGTGTGTAGCCTTAGATGAGTTATTTCACCTCTACCTCAGTTTTCTTATGTGAAACATGAAGGTAATGAAAATAGAAAAATGAGAATTGAGAAATGGATGTCCATCTGTTGTACACTAAATGTTCAGTGTCCTTATCAGTGCCATATTCATCACCACTAGTCTTTTCCCACCCAACCTCTGCAGGATGTGAAGTGATAGCTGTGAATACCCGCTCCACGAGTCAAACCTTTATTTATAAATGCGACGCAGTTCTCTGTACCCTTCCCCTGGGTGTGCTGAAGCAGCAGCCACCAGCCGTTCAGTTTGTGCCACCTCTCCCTGAGTGGAAAACATCTGCAGTCCAAAGGATGGGATTTGGCAACCTTAACAAGGTAGCTTGCCCTAGACACTCCTGTCTACAGATCTGATGTACAAATAGCAGTCTTCGTTGTTTACTTGGTGAGGAGGTGGCCTTGCATTTTTGGGCATTTGGC
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GCAGGGCTATACCATCTTTTCTTAAATTTCAGTGTGATTTACTCTTCAAGTGAGAAATCACAAGGCTTCTTGGACCAATCTCTAAATCTGAGACTTTGGCCAGAATTAAGACTGTATAGGCTGGGTACGGTGGCTCACGCCTTTTTAAACCCAGCACTTTGGGAGGCCAGAGCAGGAGGATCAATTGAGTCAGGAGTTCAAGACCAGCCTGGCCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCGGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTATAGAAGTAAATTATTAAATTTTTATTTATATATTTTAGTTTACATTATACATTTTCCTAATAAAAATTATTTTGACAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCGTGGTGGCGCATGCCTGTAGTCTCAGCTGCTTGGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTGCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAATTATTTTGACTTCTTAATCTTTAGATTATAATCTGATAGTTTTAGTATTTGAAGAGTTGGACTTGTTAGAGATAAAGTCTTGCAGAACTACCAGTTCCTTTGTGGTTTTTCATGTAAATACTAACTTAGGCCCTTCTAGTCATTGATTTATCATTTGATGTTTCAATATGTGTCTATTTGTAATAGTATTAAATTTTAAATGAGTGATTTCAGCTGAAGTAGAGTGTTGCTGCCAGCCCAGTATTTTGATCTAATTTCCCCAAGAATTTCATGAAATTAGAAATCCTTACCAGCTTACAAAAAAAATGTTACATAGAAAAATTTTCAGTAAATTCAAAGAAGTAAGATCATTTTGGGGATCTTTAAATTCCTGGTCAATTCCTGACTTTTTTTTTACTGTATGGACTGTCTTGGGCCACTCTTTATGGTCCTAGATTACCTTCATCTAGTTTGACTGACTTAGTTTTGGAAATCTTCCTCAACTTCAAACCTGTAAATTTAAAGAATAAAAACTGATTTTGCTCTCAGGTAAAAGAAAATGTAATCAGGACTGTGACCCTGATATCCTTCAAGTCTGTAATGTATTCAAAAGCCAGATAAATAAACTTGAATGATGTTTAATCATCTGAATTTCCTGAATCATCATTCCCCCTACCACCTCCCTACCCTAACCACCATAGAAGATCCGGACTTAGTGGTATTGGACTGGAATGATAAAAACTATCCAGGGAAGGCCGAGCGTGGTGGCTCATGCCTGTAATACCAGCACTTTAGGAGGCTGAGGTGGGTGGGTCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCGGGGTGTGGTGGTACATGCCTGTAATCCCAGCAGTTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGTCCGAGGTTGCAATGAGCCGAGAGCACGCCACTGCACTCCAGCCTGGATGACAAAGCAAGACTCTGTATCAAAAAAAAAAAAAAATCCAGGGACAAAAGAAACTTCCCTAATCTCACTACCCGAAGATTTAGGGACATTTTTTGGTGTTTTCTCTTTTTCCTTCAGTTTCCTTTGGTAACTGTAGCTAAATACTGAGTGATTTGTTCTTTAGTTTGCCTTAAAATATTGACTGTTTCCACAAGCTTGTGTTTTCATTGTTGTTGTACAGAACTAGGTGCAAATGACACAGATTAATAAAAGGTTGGAAATATGTTCTTTTCTCTCCTCTTTAGGATGGTGACTTTGAGTTCACTGGCAGCCACCTGACAGTAAGGAATGGCTACTCGTGTGTGCCTGTGGCTTTAGCAGAAGGCCTAGACATTAAACTGAATACAGCAGTGCGACAGGTTCGCTACACGGCTTCAGGTATGTCACTGCTTTACAAAAGGTAAGAGAGAACTCTCCTGAAACAGGACTGATCTTTTGTTAGGTGCGACCTATCAGGTACATTTCCTGATAGAGTGTTTATGACACCATAGGTAAAAATTGGCATTTATAGACAGTTGAGCCTATAGAGTCTTTGGTGGTTCTAACCCTATCATTTTATAAACTGGGAAATCGAAGCAAGTTTTAGAGTTTCCAATTTGTGCATGAGCTAGTTGGATATTACTGGTCGAGCATCCCTAATCTGAAAATCTGAAATCTCTAATGCCCCAGTGAGCATTTCCTTTGAGCACCATGTCAGTGCTCAAAAAGTTTTCCATTTTGGTGACCCAGTGAGTTTGGATCTAGTTTTGTTAAGTATATTCATAAATACCAGGATTTTGGCCCCTGGGCTCCACTAGGACCCACCCCTTATATTTCACCATCCGCATTTTGGTCTTTGGATTCATTTTGGCTTTTTCTATGCATTTGGGCTAATTCGCTTACGTTTGGTTCCTAGTTCTGGAGCAGTCCTGCTAATAAGTTGACTTCTTCAGAGATAGAGTTTCCCTGTGCTTGCTATGGGGATAGGCTCAATGCTCATTATTATTGCTGGTTTCAGGCTACATTTGATGTAAAGTGCAGACAACTGTTGGATTTTGAACTCCTCAAGATAACTAGTCATCTCCCTCTCTGAGAACCCATGTATGACTATGTAGGCATGAGAAATGGAGACATAGCCATCAATCTTACCCTGCGCTGCCCCTTTCCTTGGAGTTACTGAGATCACCACAGATGTTTTGGTTTTTTACTAACAATCAGTGAAACAGTTTTCCATTTAATTTTCCCATCAGAGGCAGCTTGTAGTTGACAGTGCTGAGAAGATCTGCAGCCTTGAGCCTTTTGCAGGCAGACGGAGAACAGTGAGAATAGATGTTGTGCCATTTTCTCGAGTTCTGCAGCCATAGAAAATGAGCATGTACTGAGCTTTCATATTTATTTTGAGATATATAATTTCAAAATATATATAGTATATAAACAGACATTCATTAAAAAACAAACGAGGAAAACGATGTTAACATAATTTCAGTACCCTCTCTGAGGTCAGCTTTGAACTCATTCATACTCTGACAAGCTGAGAATCACTGTGCATTCTCAAGCATAGCACGCTCCACAGTTTTAGGCTGCATCCCCCAGATCTGCATCACAGCCTTCTTGTAGCATTCTTCTGTTGGTCGATAGTGAGCAGCTAACCACAGTCAGAAGACATTGGTTCTATTGGGATGAGCACTTTATTCTTTATTTTTGGTCTAAATGTACTTAACTTGAGTAAGTGGTATAAGGTCCTTTCATTAGTCTAGATCACCAGTGTATCAGGAGGGTAGTGTGGGGATGACAGTTGAGGATTCTGAAGTTGACTACAAGGGTTTGAATCCTGGCACTTATTACGTGTGTAGCCTTAGATGAGTTATTTCACCTCTACCTCAGTTTTCTTATGTGAAACATGAAGGTAATGAAAATAGAAAAATGAGAATTGAGAAATGGATGTCCATCTGTTGTACACTAAATGTTCAGTGTCCTTATCAGTGCCATATTCATCACCACTAGTCTTTTCCCACCCAACCTCTGCAGGATGTGAAGTGATAGCTGTGAATACCCGCTCCACGAGTCAAACCTTTATTTATAAATGCGACGCAGTTCTCTGTACCCTTCCCCTGGGTGTGCTGAAGCAGCAGCCACCAGCCGTTCAGTTTGTGCCACCTCTCCCTGAGTGGAAAACATCTGCAGTCCAAAGGATGGGATTTGGCAACCTTAACAAGGTAGCTTGCCCTAGACACTCCTGTCTACAGATCTGATGTACAAATAGCAGTCTTCGTTGTTTACTTGGTGAGGAGGTGGCCTTGCATTTTTGGGCATTTGGC
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Task1_train_580
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This variant affects gene KDM1A (lysine demethylase 1A) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
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ATTACTCCTCACTGCCCAGTGGTGAATGGTCTTTCACACCCCAGAGCCTCTAACTTCACAGAGGGGGAACTTGGCTCCCTGAGCACATTGCTTTCTGAGAGCAGCAGCGTGTCTTTTCCCTTCCCCATCCAGGCTGTCAAGTCCTGTCAGTGCTAGCCTTACAATCTCTTGCAAACCTATTTACTTTTTTCTATTGCCTACCTCCCAGTCCAAGCCATTCTTACCTGTTGCCTGGACGGTTACCAATAGCTACTACTGCTATTCCTGCTTCTTTTAGTGACTTTCTACTGCTGAAAGAAAATGTTCAAACTCCTTATCTTGGCCCATGCTAAGGTTCTTCATTATCTAGCTCATCTCTACTTCCTTGTCCATCCCCAGATTCCAGGCACATTCGGCTGTTCTCACATCCTGGAAGGCACCATGCTGCTTTCTGCCTCAGAGCCTCTGCGTGTACTGTGGTCTAGGCCTGGGGGTGCTGCTTCTCCCACCCCCTCGACCCCCTTCCTTCCCAACCTGTCTTACTCAGCATTCAGGTCTTGACATAAATTTCAAAGTATTTCAAAGACGACTTCCAGGACACATCTCCACTGCCCCAAATGTAAATTAAATACCCCATATTCTTTTCCGTGTAGCCTACGTTTTTCTTCATAGCTTTTAAGTTAATAATTGTCTGTGTAATTTTGCATCTGTTGCTCTATTGGAGTAATAGTTTATATCATATTTTTTATCCCCCTTTTCTAGTACTGTGCCTACCACCTAAGTCTGTTGCATAATTACTCACCGGATGGGTGACTGAAGACAGTCCTGGGCTTGGAGGGGCCTGGGATGGCTAAAAGGGATGTAGTCATTGTCATGGAGCTATCCAAGGTAGTCAAGGTTAAGAATTCTGTGCCAAAGTAAAGCGATGCTTAATAATTCCCTTTTATTAGCAAGATCTGAAATTATATCTTCAGAACTGCTGTATTTTGCCAGGTTAGAAGCAGTGAGGTGCCTGAGAATCTTACTTCACTCTAGTCTGCCAGCTCCTACTGGCTGGTGTCTGGCGACAAAGAGTTCTGTATGCTGTTTCAGAAACATAATCTGTCTCTTCGCATTTGAATGGTACTGCGTGTGTCTTGTCATCAGATTTCAGAGCACCAGGAATAAGGTGGGGCCTGATAAGGAAGTTTTTGAGGAAAGTCTGTAGGAAAACCCTAGAATTATCCTTTCTGTTTCCCCAGCTCCAATACTGTTGGCACTAGTGGCAGGAGAAGCTGCTGGTATCATGGAAAACATAAGTGACGATGTGATTGTTGGCCGATGCCTGGCCATTCTCAAAGGGATTTTTGGTAGCAGTGCAGTACCTCAGGTAAGTAGGTAGGTGGGGCAAGGAGGGATCTAGGGTTCAGACTCAACCAGGGTTTAATGTATTTGCAGCATGTTCTTGGTCAGGACAGTTTAAGCTAGAATTGAGGTCTGTGCTTTTACATGAATAATTAATGTTTGGAGTTCATGGCCTAAGCGTGGGGTTCAGAAAACCCCCCAGGACAAGAGCTGGGGAGTCTGAAGGCTGCTAGCTGCATTTCTCCTCCGGCTTTAGAGTCACACCAGATCCCTGACATTTTAGACAAAATGGCCAAACTCCAGTGAGTATCTCCGGGAAGTTTTCAGAGAACCTCTTGGTACTTTTTCGTGTTCTTTGAAATACTTTAACCCTTTAGGATTCCTTTGAAGGGAAGGATATTGTGAATTTATAAAAGAGAATAAAGGCCAAGCCCTGTGTAGATCTCTGGATTCATAGACAGGAAGGCAACATGGAGGGGCATCCTTCCTGTCTGAAGTCCTTTTGTCCATGTGTGTTTTAAAGCAGGCATTCATCACTTGATCACTGGCTCTCACATGTTGCCCCTCTTTCTCTTCACTTGCATCTCCACCCACCACTGCTTTTCCACCTTTCAAGGATTGATTTGTGCTTGGTGTCTCGTAATGACTTTTGCTCCTGGTTTTTCTTTTAGCCCAAAGAAACTGTGGTGTCTCGTTGGCGTGCTGATCCCTGGGCTCGGGGCTCTTATTCCTATGTTGCTGCAGGATCATCTGGAAATGACTATGATTTAATGGCTCAGCCAATCACTCCTGGCCCCTCGATTCCAGGTGCCCCACAGGTGAGAAGCTGGCAAACTATCTGGGCTTATTTGGGAAGAGGCCAGGATCTCATGATGTCCCTGATTTTTTTTTTTTTTTTCAGATTTTAGTCATTCCATCTTCGGACCCTTTCAGATAACCAAGAGCAGAGTTAAAAGGATGGGCAGCATTTCTGATTTCTCATAATTTGGTTTTGTAAATCTAGGCAGTCTACATTCAGAATGGAGGAGTCCAGAGTATAAGTCAAATAACATTTTTCCTTATTCAGGTTTTCTCCCTAAAAAACAAAACCATTTTTAATTGCACTTCCATTTTGTAATGGCTCATAGGATTGCTGTAAGGTCTCAATTACTAGGGGCTTCCAGGGCATTTCTGAGAAATAACCCTGGGTCCTTGTCTAGACCCTTATGCCAGACCCCACTCCAAAGAGCGGTAAGAATTCCTTAGTGTCATAGCCCAGACCTGCTGAGCTGCGAGGCTTAAGTGTCCCTGATCACCAAATGTCCTGTGCTTCAGGGTAGCGAGGCTCCCTCCCAGAAGGTAGTTATACATGAGGGAAGGACGCTTTACAACTGGGTATCTAAACTGATGAGAACACATGTTAAGCATCACTTTAGGACTGAGCCTAGGTAGAGTTTTATTGTCTCATTTCTACTTGTCAATTCTGGGAAAGTGCCTACTGATAAGGGAGACTCTTCGATAGAATGATGAATAGTAATTGGGGGGGTCAGCCTTTAAAAAGGTCAACAGCAATTTAAGTACTTAGCAATTTAAGTACAAGAATAAAGGTATATGTGCAGCCTGCCAATTTTCTCTTTTTCCCCTAAAATAGCCGATTCCACGACTCTTCTTTGCGGGAGAACATACGATCCGTAACTACCCAGCCACAGTGCATGGTGCTCTGCTGAGTGGGCTGCGAGAAGCGGGAAGAATTGCAGACCAGTTTTTGGGGGCCATGTATACGCTGCCTCGCCAGGCCACACCAGGTGTTCCTGCACAGCAGTCCCCAAGCATGTGAGACAGATGCATTCTAAGGGAAGAGGCCCATGTGCCTGTTTCTGCCATGTAAGGAAGGCTCTTCTAGCAATACTAGATCCCACTGAGAAAATCCACCCTGGCATCTGGGCTCCTGATCAGCTGATGGAGCTCCTGATTTGACAAAGGAGCTTGCCTCCTTTGAATGACCTAGAGCACAGGGAGGAACTTGTCCATTAGTTTGGAATTGTGTTCTTCGTAAAGACTGAGGCAAGCAAGTGCTGTGAAATAACATCATCTTAGTCCCTTGGTGTGTGGGGTTTTTGTTTTTTTTTTATATTTTGAGAATAAAACTTCATATAAAATTGGCCCTCTCTTTTGTTCCTTTGAGTTGGAGTTACATACAAGATGGGGGCATTACTCCTTTGGAAATGCCAAGTTTATCCTATGGCAATAGTAATACATGTTTTCTCCATGTTTAAATAAGGAAGAAGATGTTCATATAAAAGAGAAAAATGGTTTGATCAGGTCAGAAGATAAGGTAGGGGGGCCGGTCCTGTAGAAGCAGTGGACTTCCTGGTCAGTCGGACTAGGCTTCCTCACTTGGGTGGGGGTGGAGTGTGGTGGTGTGCCAAGAACATGGTTATTAGGAAACTTTGGATGCACTTTCAAGATAGAACACAAAAGAGCTGAAACAAAGTCTGAGCCTTTGGGAGACCAGTCTGCCTTTATTCCTGATTCCCTCCATGGGTATGTGCTAAAACTTCCCAATTCTACTAAAGGTGGTGGTGTACATTTTGGGAAGCGCACTACATAGGATCAAGGGCTTAGGTAACAGCTGGTTTAACAGATTGCCACAAACTTAGTGGCTCTTAAAAAAACAGAAATCTATTCGAAAGTTCTGGAAGCTTAAAGTCTAAAATGGGTACACAGGGCTGCATTCATTACAGAGGCTCTCAGAGCAGGGAGGATCAGTTCATTTCCTTGCTCTTTTCAGCTT
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ATTACTCCTCACTGCCCAGTGGTGAATGGTCTTTCACACCCCAGAGCCTCTAACTTCACAGAGGGGGAACTTGGCTCCCTGAGCACATTGCTTTCTGAGAGCAGCAGCGTGTCTTTTCCCTTCCCCATCCAGGCTGTCAAGTCCTGTCAGTGCTAGCCTTACAATCTCTTGCAAACCTATTTACTTTTTTCTATTGCCTACCTCCCAGTCCAAGCCATTCTTACCTGTTGCCTGGACGGTTACCAATAGCTACTACTGCTATTCCTGCTTCTTTTAGTGACTTTCTACTGCTGAAAGAAAATGTTCAAACTCCTTATCTTGGCCCATGCTAAGGTTCTTCATTATCTAGCTCATCTCTACTTCCTTGTCCATCCCCAGATTCCAGGCACATTCGGCTGTTCTCACATCCTGGAAGGCACCATGCTGCTTTCTGCCTCAGAGCCTCTGCGTGTACTGTGGTCTAGGCCTGGGGGTGCTGCTTCTCCCACCCCCTCGACCCCCTTCCTTCCCAACCTGTCTTACTCAGCATTCAGGTCTTGACATAAATTTCAAAGTATTTCAAAGACGACTTCCAGGACACATCTCCACTGCCCCAAATGTAAATTAAATACCCCATATTCTTTTCCGTGTAGCCTACGTTTTTCTTCATAGCTTTTAAGTTAATAATTGTCTGTGTAATTTTGCATCTGTTGCTCTATTGGAGTAATAGTTTATATCATATTTTTTATCCCCCTTTTCTAGTACTGTGCCTACCACCTAAGTCTGTTGCATAATTACTCACCGGATGGGTGACTGAAGACAGTCCTGGGCTTGGAGGGGCCTGGGATGGCTAAAAGGGATGTAGTCATTGTCATGGAGCTATCCAAGGTAGTCAAGGTTAAGAATTCTGTGCCAAAGTAAAGCGATGCTTAATAATTCCCTTTTATTAGCAAGATCTGAAATTATATCTTCAGAACTGCTGTATTTTGCCAGGTTAGAAGCAGTGAGGTGCCTGAGAATCTTACTTCACTCTAGTCTGCCAGCTCCTACTGGCTGGTGTCTGGCGACAAAGAGTTCTGTATGCTGTTTCAGAAACATAATCTGTCTCTTCGCATTTGAATGGTACTGCGTGTGTCTTGTCATCAGATTTCAGAGCACCAGGAATAAGGTGGGGCCTGATAAGGAAGTTTTTGAGGAAAGTCTGTAGGAAAACCCTAGAATTATCCTTTCTGTTTCCCCAGCTCCAATACTGTTGGCACTAGTGGCAGGAGAAGCTGCTGGTATCATGGAAAACATAAGTGACGATGTGATTGTTGGCCGATGCCTGGCCATTCTCAAAGGGATTTTTGGTAGCAGTGCAGTACCTCAGGTAAGTAGGTAGGTGGGGCAAGGAGGGATCTAGGGTTCAGACTCAACCAGGGTTTAATGTATTTGCAGCATGTTCTTGGTCAGGACAGTTTAAGCTAGAATTGAGGTCTGTGCTTTTACATGAATAATTAATGTTTGGAGTTCATGGCCTAAGCGTGGGGTTCAGAAAACCCCCCAGGACAAGAGCTGGGGAGTCTGAAGGCTGCTAGCTGCATTTCTCCTCCGGCTTTAGAGTCACACCAGATCCCTGACATTTTAGACAAAATGGCCAAACTCCAGTGAGTATCTCCGGGAAGTTTTCAGAGAACCTCTTGGTACTTTTTCGTGTTCTTTGAAATACTTTAACCCTTTAGGATTCCTTTGAAGGGAAGGATATTGTGAATTTATAAAAGAGAATAAAGGCCAAGCCCTGTGTAGATCTCTGGATTCATAGACAGGAAGGCAACATGGAGGGGCATCCTTCCTGTCTGAAGTCCTTTTGTCCATGTGTGTTTTAAAGCAGGCATTCATCACTTGATCACTGGCTCTCACATGTTGCCCCTCTTTCTCTTCACTTGCATCTCCACCCACCACTGCTTTTCCACCTTTCAAGGATTGATTTGTGCTTGGTGTCTCGTAATGACTTTTGCTCCTGGTTTTTCTTTTAGCCCAAAGAAACTGTGGTGTCTCGTTGGCGTGCTGATCCCTGGGCTCGGGGCTCTCATTCCTATGTTGCTGCAGGATCATCTGGAAATGACTATGATTTAATGGCTCAGCCAATCACTCCTGGCCCCTCGATTCCAGGTGCCCCACAGGTGAGAAGCTGGCAAACTATCTGGGCTTATTTGGGAAGAGGCCAGGATCTCATGATGTCCCTGATTTTTTTTTTTTTTTTCAGATTTTAGTCATTCCATCTTCGGACCCTTTCAGATAACCAAGAGCAGAGTTAAAAGGATGGGCAGCATTTCTGATTTCTCATAATTTGGTTTTGTAAATCTAGGCAGTCTACATTCAGAATGGAGGAGTCCAGAGTATAAGTCAAATAACATTTTTCCTTATTCAGGTTTTCTCCCTAAAAAACAAAACCATTTTTAATTGCACTTCCATTTTGTAATGGCTCATAGGATTGCTGTAAGGTCTCAATTACTAGGGGCTTCCAGGGCATTTCTGAGAAATAACCCTGGGTCCTTGTCTAGACCCTTATGCCAGACCCCACTCCAAAGAGCGGTAAGAATTCCTTAGTGTCATAGCCCAGACCTGCTGAGCTGCGAGGCTTAAGTGTCCCTGATCACCAAATGTCCTGTGCTTCAGGGTAGCGAGGCTCCCTCCCAGAAGGTAGTTATACATGAGGGAAGGACGCTTTACAACTGGGTATCTAAACTGATGAGAACACATGTTAAGCATCACTTTAGGACTGAGCCTAGGTAGAGTTTTATTGTCTCATTTCTACTTGTCAATTCTGGGAAAGTGCCTACTGATAAGGGAGACTCTTCGATAGAATGATGAATAGTAATTGGGGGGGTCAGCCTTTAAAAAGGTCAACAGCAATTTAAGTACTTAGCAATTTAAGTACAAGAATAAAGGTATATGTGCAGCCTGCCAATTTTCTCTTTTTCCCCTAAAATAGCCGATTCCACGACTCTTCTTTGCGGGAGAACATACGATCCGTAACTACCCAGCCACAGTGCATGGTGCTCTGCTGAGTGGGCTGCGAGAAGCGGGAAGAATTGCAGACCAGTTTTTGGGGGCCATGTATACGCTGCCTCGCCAGGCCACACCAGGTGTTCCTGCACAGCAGTCCCCAAGCATGTGAGACAGATGCATTCTAAGGGAAGAGGCCCATGTGCCTGTTTCTGCCATGTAAGGAAGGCTCTTCTAGCAATACTAGATCCCACTGAGAAAATCCACCCTGGCATCTGGGCTCCTGATCAGCTGATGGAGCTCCTGATTTGACAAAGGAGCTTGCCTCCTTTGAATGACCTAGAGCACAGGGAGGAACTTGTCCATTAGTTTGGAATTGTGTTCTTCGTAAAGACTGAGGCAAGCAAGTGCTGTGAAATAACATCATCTTAGTCCCTTGGTGTGTGGGGTTTTTGTTTTTTTTTTATATTTTGAGAATAAAACTTCATATAAAATTGGCCCTCTCTTTTGTTCCTTTGAGTTGGAGTTACATACAAGATGGGGGCATTACTCCTTTGGAAATGCCAAGTTTATCCTATGGCAATAGTAATACATGTTTTCTCCATGTTTAAATAAGGAAGAAGATGTTCATATAAAAGAGAAAAATGGTTTGATCAGGTCAGAAGATAAGGTAGGGGGGCCGGTCCTGTAGAAGCAGTGGACTTCCTGGTCAGTCGGACTAGGCTTCCTCACTTGGGTGGGGGTGGAGTGTGGTGGTGTGCCAAGAACATGGTTATTAGGAAACTTTGGATGCACTTTCAAGATAGAACACAAAAGAGCTGAAACAAAGTCTGAGCCTTTGGGAGACCAGTCTGCCTTTATTCCTGATTCCCTCCATGGGTATGTGCTAAAACTTCCCAATTCTACTAAAGGTGGTGGTGTACATTTTGGGAAGCGCACTACATAGGATCAAGGGCTTAGGTAACAGCTGGTTTAACAGATTGCCACAAACTTAGTGGCTCTTAAAAAAACAGAAATCTATTCGAAAGTTCTGGAAGCTTAAAGTCTAAAATGGGTACACAGGGCTGCATTCATTACAGAGGCTCTCAGAGCAGGGAGGATCAGTTCATTTCCTTGCTCTTTTCAGCTT
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Task1_train_581
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A variant affecting Chromosome 1, within the gene HNRNPR (heterogeneous nuclear ribonucleoprotein R), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
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CTGGATCTGTCTTACCAAAGAAATACCCATGTTAACTCAAAACTATCATACAACAGACCATAATTCCTTTATCAGTTTCCAAAAAACTAAAATATCAATAAGGTCTGTTAAATGACTATACTGTGTAATGAGTGTACTTTGAAAAAGAAATGAAATATATTGACTTTCATCAGTAAATAGTAATCTTAAATTGAAATGAAAAGAAGCCATGAAACCCAATATGATCTAGCCAAGATTACACGGAATTAAGTGGCTTATGATTTTGAAATCTAATATTCCTATCACAAAGACACCAAACAGGAACAAAACACAGAATAATGGTGTATCCATTTTAATTATTCCCCAATGGCTTCTGATATTTTTATCATTATAAAAACATTTGAGAACCACGTAAGAATAAGATGGAGGGGAAAACTTAATAGTAATTTGAAAGTGATTCACTTTTCTGTACCGTAAAGCTTAGATTCTTTTGTTCCTCTCATTCTCAAGCAAAAAAGTCATTAGAATAAATCAGAATTTCTAAAGGAAATAGGGAAATAGATGTTATGTCTTGGCCAACAAAAAATTTGGGCATCAGGGATAGCAGATAAATAAAAATAAACGAAGTGTTAACAGAAAGTCAAAGGTATTACTACTGGATATTTTTAAGCCTCTCTTACAAGGCATGAATGTTTCTCAAAGCAAATTTACATAGTAATAGGAAATTATATTCCTAAACCAGTAACTGAAATGGTAGTCACGATCATTTTCACTAAAACTAAAGTCCGCAGTGCAATTGACGCCACAGTACTAACAATTTTCCCTGTATGTACATTCACTTATCCAGCAAATAAGGTCTTCAGTCACAAATTATCCCTTATAAAGAATGTGGGTCAAAATAAATTGCAGTCTGCTTTCCCAGCCACATTTTATTTGTTTTAATGCAAATTATCCAATGCCTGCAAGAATGCTCAAAAGTCTATGAACCTGTTTTTTTTTTTTTAATAAAAGATAAAATTTCAAAATTAGAAGAGACTATGAGAGAACACCAATCAATGAAAGTGCTAATTGGAATAAATACTTGAATTTAGACTAATCCTCAGTCTAATATCCACAACACATGTTGGAATAAACAAGAAATTTTGCATGAATTTGATCACTCACATAGGCAGTTATACTTTGAAAACAATATTCCTTGCAAGGATTACGAATAAAATAATGTTTTAGGACACAATTGAATTTGAAATAGGTAATGTTTTGAATAGATTTTTTAGTTTTATTGAAATCTTACATGAACAAGAAATTGGAAATACAATCACATCAAAGAACAAATTGTCACGGCTTTTGACGTTTAAGCCAAACAAATTTTGTAGGGCAGATTTCAAAAAGGTGTGAAGTTATAACAATTTAAAAACACAGTTAACCTACTTCTAGGAATGCAAAACATACAATCATAGGTTATTTTCAATACAAGAAAACTTAAATTTGTTTGCTTTAATTTCTTAAAACTACTAAGACAAAGCACTAGCTTGTATTTTTATTTACAGCATACTCCATACTCCTATGTAATCTATCCCAAATCCAAAAAAATGAAACTGTCCAAAACCAAAGGTTCTGCAAAATCATGATTTAACAGTGTGCCCAGCTTGTTTTGAAGCTAAAATGAAGCCTGAAACGATAAAAGCATTGTAATCCCCAGAATAAGGGAACTCTGCAAGCCCAATAATGTCCAAGAGCATTTATGAAAAGAGGAAAAATAAAAAGACTTGAGTATATACACAATAGTGATTTCTTCAGCCCAATACAAATGGCAGCAAAATGCTACTTAAAGATGAAACAGTTAAGCCAATTTTTTTTTTTGAAGAATGTAGATCTAGAGCCAATCGTATCTTGCCAGTATCATTTTCAAGCCCTTACTTGTCTACTTCCACTGTTGCCCATAAGTATCCTGATAAAATTCCTGGTTGTCATTATTGTAACCATAGTTACCAGAATAGTCACCACCTTGCTGAAGCGGCTGCTGAGCGATGGGTTGGGAACCCCAGTTCTGTTGGTTGTTGGTCTGACGACGCTTGGAATCAGGCTGGTTGTACCCATCTGCCTTTCTCTTGCCTCCTACATTGCCCCCACGATTGCCCCGAGATCCACGGGAACCACGGCCTCTCTGCTGTTGAGCAGGACCCCCTCTGCCACCCCTAGAGCCTCTTGGTGGTCCCAAAGGTGCCCCCCTCTGTGAATAGCCAGCTCTACCTCTTGGAGGTGGTGCTCCCCTCCCCCTTGGTGGTGGTGGAGCACCTCGCCCTCCCCTTCCTCCTCCTCTTCCTCTTACTGCATAGCCATCATCATAGCCGTAGTAGGGATCTTCATAGCCTCCACGATAGTCGTGATAATCATAACCATAGTAATCATCATAGTAATCTTCATAGCCGTAGTAATCTGGAGGGTAGCCATATCCACCTCTCCCCCCACCACGACCCCGACCTCTAATTGGAGGTGGCATGCGAGGAGGAGGGTGGTAGTAATAATCTTCATACCTAGCAAAGTAGAGAAGGGAGAAAAGAAAAAACAAATCAGTTTGCTTCAAGACTCTGATTTTGTTTTATTAATCTGATCTCCATTATCACGTTATTCCTTGTCCAAAGATATATCTACTAAAATGTAGACTCACGCAGTGCTTCTGGAGGCCTGTCTAGCAGCTTGGCGCTCTTTCCTTTTCTTGTCTGGTGGCTTGGCTAAGACTATTTCAATTTCTTCCCCTTCTATTTCTTTGCCATTCATTTCATCCATAGCCTATAAAAAATTAGAAAAATTATTTTACAACGATATAAAACTGTATTTTGTTTTATATAGTATGTAAGCTATTATACTTGTGTAATTTAATACACTTAACAATTTACTTCACAATTATTTTAAATGGCAAAAGGTGAATCTAGCCAGAAAGTTAAACACAAACACACAAAGAAAATACGTTTCCCTTGACCTTATCTTTTTATACATAAATTACATTTAGAACAAAACCGACCACCTGATATTATATTTTAAAAGGTAAAAGGGCTGCCACCTATTGCTGCTCCTTAATTCCAAATAACTCCTTAAAAGATAAGCCATACCAAAGAAGCAAATCCATACCGGGGAAAAATGCCAGTATTAATACGAGCCAGACAAAGATTAACTTCTCAGGATTAGAATTTTAAAATAAACATGTAGCATACAACATACAGGTCTTCCACTGTTCTTATACGACAATTTCAAGGATTTGAAGCACAAATGAGGTTACTGAGTGAGATTATCTGTAAAATTCAAGAAGATACTAACACAAAAAAGCCTAGGTTTCCCTCACAATGCTTAACCCAAAATGTACTTTGCTTGAACAGTTAAAAGTACAGAGCCAGAAAAGGCCTGGACTAATGAAGACTCAAGCAATTATGTAGAAAGCAGTAATCAAACATTCCATGTTCTAGCCCTTTGTTCACGTTGTTCCACCTAACAACCTCTGCCATACATCAAAAGGTTCAGGTACTCAGTAACAAAATGTCACCTCCTCATGATATTTTATTTTTTGTTTCCCTATACCTTTCCCCACTCTGGGCACACATAAAAAAATGTTCTATTGGAGCTATCAGTGATTTATAAGTATCTAGACAAAAACGAAACTAGTCCTCAAGACTGCAATTTTCCCTTTTACCACCTCAGCTTTGCGTTGCTTCAGTTAAAGCAACTAAACAAGTTTACAAAAGCTTCCTGGCATAAATTAAAAAATGAAACATCTACCCTCTGCCCTGACCATCCTGGTGACTCCCAGTTCCTGGACTAGATATTTTATAATTTCATAGGCTTCTTTGGCAAACCATCCTATAAATATTTTCAATCAGGACAACCAGTTATTTGAAACCAGTCGAGTCAGGAGGAATATTTAGACAGCATAAAATTATTAGTTATCTGCATTCTATACCAGTGAAATTTCAGAAGCCACAAATGAACGGATAAGAGTATAACAGCATAACAGATAAGACTCCATACTTCAAAGCCAGATTATTACTGAGTTTGTGATCTTGGACAAGTTATGAATTTTATGAACAATACTGCCTCATTAATTAGCTACCATCAATGAGCAAGC
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CTGGATCTGTCTTACCAAAGAAATACCCATGTTAACTCAAAACTATCATACAACAGACCATAATTCCTTTATCAGTTTCCAAAAAACTAAAATATCAATAAGGTCTGTTAAATGACTATACTGTGTAATGAGTGTACTTTGAAAAAGAAATGAAATATATTGACTTTCATCAGTAAATAGTAATCTTAAATTGAAATGAAAAGAAGCCATGAAACCCAATATGATCTAGCCAAGATTACACGGAATTAAGTGGCTTATGATTTTGAAATCTAATATTCCTATCACAAAGACACCAAACAGGAACAAAACACAGAATAATGGTGTATCCATTTTAATTATTCCCCAATGGCTTCTGATATTTTTATCATTATAAAAACATTTGAGAACCACGTAAGAATAAGATGGAGGGGAAAACTTAATAGTAATTTGAAAGTGATTCACTTTTCTGTACCGTAAAGCTTAGATTCTTTTGTTCCTCTCATTCTCAAGCAAAAAAGTCATTAGAATAAATCAGAATTTCTAAAGGAAATAGGGAAATAGATGTTATGTCTTGGCCAACAAAAAATTTGGGCATCAGGGATAGCAGATAAATAAAAATAAACGAAGTGTTAACAGAAAGTCAAAGGTATTACTACTGGATATTTTTAAGCCTCTCTTACAAGGCATGAATGTTTCTCAAAGCAAATTTACATAGTAATAGGAAATTATATTCCTAAACCAGTAACTGAAATGGTAGTCACGATCATTTTCACTAAAACTAAAGTCCGCAGTGCAATTGACGCCACAGTACTAACAATTTTCCCTGTATGTACATTCACTTATCCAGCAAATAAGGTCTTCAGTCACAAATTATCCCTTATAAAGAATGTGGGTCAAAATAAATTGCAGTCTGCTTTCCCAGCCACATTTTATTTGTTTTAATGCAAATTATCCAATGCCTGCAAGAATGCTCAAAAGTCTATGAACCTGTTTTTTTTTTTTTAATAAAAGATAAAATTTCAAAATTAGAAGAGACTATGAGAGAACACCAATCAATGAAAGTGCTAATTGGAATAAATACTTGAATTTAGACTAATCCTCAGTCTAATATCCACAACACATGTTGGAATAAACAAGAAATTTTGCATGAATTTGATCACTCACATAGGCAGTTATACTTTGAAAACAATATTCCTTGCAAGGATTACGAATAAAATAATGTTTTAGGACACAATTGAATTTGAAATAGGTAATGTTTTGAATAGATTTTTTAGTTTTATTGAAATCTTACATGAACAAGAAATTGGAAATACAATCACATCAAAGAACAAATTGTCACGGCTTTTGACGTTTAAGCCAAACAAATTTTGTAGGGCAGATTTCAAAAAGGTGTGAAGTTATAACAATTTAAAAACACAGTTAACCTACTTCTAGGAATGCAAAACATACAATCATAGGTTATTTTCAATACAAGAAAACTTAAATTTGTTTGCTTTAATTTCTTAAAACTACTAAGACAAAGCACTAGCTTGTATTTTTATTTACAGCATACTCCATACTCCTATGTAATCTATCCCAAATCCAAAAAAATGAAACTGTCCAAAACCAAAGGTTCTGCAAAATCATGATTTAACAGTGTGCCCAGCTTGTTTTGAAGCTAAAATGAAGCCTGAAACGATAAAAGCATTGTAATCCCCAGAATAAGGGAACTCTGCAAGCCCAATAATGTCCAAGAGCATTTATGAAAAGAGGAAAAATAAAAAGACTTGAGTATATACACAATAGTGATTTCTTCAGCCCAATACAAATGGCAGCAAAATGCTACTTAAAGATGAAACAGTTAAGCCAATTTTTTTTTTTGAAGAATGTAGATCTAGAGCCAATCGTATCTTGCCAGTATCATTTTCAAGCCCTTACTTGTCTACTTCCACTGTTGCCCATAAGTATCCTGATAAAATTCCTGGTTGTCATTATTGTAACCATAGTTACCAGAATAGTCACCACCTTGCTGAAGCGGCTGCTGAGCGATGGGTTGGGAACCCCAGTTCTGTTGGTTGTTGGTCTGACGATGCTTGGAATCAGGCTGGTTGTACCCATCTGCCTTTCTCTTGCCTCCTACATTGCCCCCACGATTGCCCCGAGATCCACGGGAACCACGGCCTCTCTGCTGTTGAGCAGGACCCCCTCTGCCACCCCTAGAGCCTCTTGGTGGTCCCAAAGGTGCCCCCCTCTGTGAATAGCCAGCTCTACCTCTTGGAGGTGGTGCTCCCCTCCCCCTTGGTGGTGGTGGAGCACCTCGCCCTCCCCTTCCTCCTCCTCTTCCTCTTACTGCATAGCCATCATCATAGCCGTAGTAGGGATCTTCATAGCCTCCACGATAGTCGTGATAATCATAACCATAGTAATCATCATAGTAATCTTCATAGCCGTAGTAATCTGGAGGGTAGCCATATCCACCTCTCCCCCCACCACGACCCCGACCTCTAATTGGAGGTGGCATGCGAGGAGGAGGGTGGTAGTAATAATCTTCATACCTAGCAAAGTAGAGAAGGGAGAAAAGAAAAAACAAATCAGTTTGCTTCAAGACTCTGATTTTGTTTTATTAATCTGATCTCCATTATCACGTTATTCCTTGTCCAAAGATATATCTACTAAAATGTAGACTCACGCAGTGCTTCTGGAGGCCTGTCTAGCAGCTTGGCGCTCTTTCCTTTTCTTGTCTGGTGGCTTGGCTAAGACTATTTCAATTTCTTCCCCTTCTATTTCTTTGCCATTCATTTCATCCATAGCCTATAAAAAATTAGAAAAATTATTTTACAACGATATAAAACTGTATTTTGTTTTATATAGTATGTAAGCTATTATACTTGTGTAATTTAATACACTTAACAATTTACTTCACAATTATTTTAAATGGCAAAAGGTGAATCTAGCCAGAAAGTTAAACACAAACACACAAAGAAAATACGTTTCCCTTGACCTTATCTTTTTATACATAAATTACATTTAGAACAAAACCGACCACCTGATATTATATTTTAAAAGGTAAAAGGGCTGCCACCTATTGCTGCTCCTTAATTCCAAATAACTCCTTAAAAGATAAGCCATACCAAAGAAGCAAATCCATACCGGGGAAAAATGCCAGTATTAATACGAGCCAGACAAAGATTAACTTCTCAGGATTAGAATTTTAAAATAAACATGTAGCATACAACATACAGGTCTTCCACTGTTCTTATACGACAATTTCAAGGATTTGAAGCACAAATGAGGTTACTGAGTGAGATTATCTGTAAAATTCAAGAAGATACTAACACAAAAAAGCCTAGGTTTCCCTCACAATGCTTAACCCAAAATGTACTTTGCTTGAACAGTTAAAAGTACAGAGCCAGAAAAGGCCTGGACTAATGAAGACTCAAGCAATTATGTAGAAAGCAGTAATCAAACATTCCATGTTCTAGCCCTTTGTTCACGTTGTTCCACCTAACAACCTCTGCCATACATCAAAAGGTTCAGGTACTCAGTAACAAAATGTCACCTCCTCATGATATTTTATTTTTTGTTTCCCTATACCTTTCCCCACTCTGGGCACACATAAAAAAATGTTCTATTGGAGCTATCAGTGATTTATAAGTATCTAGACAAAAACGAAACTAGTCCTCAAGACTGCAATTTTCCCTTTTACCACCTCAGCTTTGCGTTGCTTCAGTTAAAGCAACTAAACAAGTTTACAAAAGCTTCCTGGCATAAATTAAAAAATGAAACATCTACCCTCTGCCCTGACCATCCTGGTGACTCCCAGTTCCTGGACTAGATATTTTATAATTTCATAGGCTTCTTTGGCAAACCATCCTATAAATATTTTCAATCAGGACAACCAGTTATTTGAAACCAGTCGAGTCAGGAGGAATATTTAGACAGCATAAAATTATTAGTTATCTGCATTCTATACCAGTGAAATTTCAGAAGCCACAAATGAACGGATAAGAGTATAACAGCATAACAGATAAGACTCCATACTTCAAAGCCAGATTATTACTGAGTTTGTGATCTTGGACAAGTTATGAATTTTATGAACAATACTGCCTCATTAATTAGCTACCATCAATGAGCAAGC
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Task1_train_582
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A variant on Chromosome 1 in gene GALE (UDP-galactose-4-epimerase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; UDPglucose-4-epimerase deficiency
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GGGGGGTAGGGGGTAGGGGTGGCCGGTGAGTGAGCTGTGCCCTCATGACCCCTCTCTCTCCTCCCTCCAGGGCGGGGCCCTGTCCCTCTACACGGCCCTCACCTGCCCCCACCCTCTGGCTGGCATCGTGGCGTTGAGCTGCTGGCTGCCTCTGCACCGGGCCTTCCCCCAGGTGAATGTCCCCACTGACCCCCCCGCCCTTTGTGTCTGCATCCTCGTGGCTTGGGGACTGCTGCAGCACTAGCTTTGCCCTGAGTCCTGTCCGGCCTCCAGGCAGCTAATGGCAGTGCCAAGGACCTGGCCATACTCCAGTGCCATGGGGAGCTGGACCCCATGGTGCCCGTACGGTTTGGGGCCCTGACGGCTGAGAAGCTCCGGTCTGTTGTCACACCTGCCAGGGTCCAGTTCAAGACATACCCGGGTGTCATGCACAGCTCCTGTCCTCAGGTCAGTGGGGGGACCATTTCCCACTCCCACTTCTCTGCCTCCAGCCAGGTGCCTCTCGTGATCCCCTCTTAATCCCCTCAGGAGATGGCAGCTGTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCC
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GGGGGGTAGGGGGTAGGGGTGGCCGGTGAGTGAGCTGTGCCCTCATGACCCCTCTCTCTCCTCCCTCCAGGGCGGGGCCCTGTCCCTCTACACGGCCCTCACCTGCCCCCACCCTCTGGCTGGCATCGTGGCGTTGAGCTGCTGGCTGCCTCTGCACCGGGCCTTCCCCCAGGTGAATGTCCCCACTGACCCCCCCGCCCTTTGTGTCTGCATCCTCGTGGCTTGGGGACTGCTGCAGCACTAGCTTTGCCCTGAGTCCTGTCCGGCCTCCAGGCAGCTAATGGCAGTGCCAAGGACCTGGCCATACTCCAGTGCCATGGGGAGCTGGACCCCATGGTGCCCGTACGGTTTGGGGCCCTGACGGCTGAGAAGCTCCGGTCTGTTGTCACACCTGCCAGGGTCCAGTTCAAGACATACCCGGGTGTCATGCACAGCTCCTGTCCTCAGGTCAGTGGGGGGACCATTTCCCACTCCCACTTCTCTGCCTCCAGCCAGGTGCCTCTCGTGATCCCCTCTTAATCCCCTCAGGAGATGGCAGCTGTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCATGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCC
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Task1_train_583
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This mutation occurs in GALE (UDP-galactose-4-epimerase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Thrombocytopenia 13, syndromic
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CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATC
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CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCGGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATC
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Task1_train_584
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The gene GALE (UDP-galactose-4-epimerase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; UDPglucose-4-epimerase deficiency
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CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATC
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CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCGGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATC
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Task1_train_585
|
The gene GALE (UDP-galactose-4-epimerase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; UDPglucose-4-epimerase deficiency
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TCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGG
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TCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAACCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGG
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Task1_train_586
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This is a variant in GALE (UDP-galactose-4-epimerase), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; UDPglucose-4-epimerase deficiency
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ACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCC
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ACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCTCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCC
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Task1_train_587
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This variant affects the gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase
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CCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCT
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CCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTTTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCT
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Task1_train_588
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A genomic change on Chromosome 1 affects HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase
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GAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGG
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GAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGTAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGG
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Task1_train_589
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Gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase
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TTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGAGACGTACCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTT
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TTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGAGACGTTCCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTT
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Task1_train_590
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The gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase
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TCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGGGCCTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGAGGAGGTTGAGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGATGCCATCTCCCAAAAACACACACACACACACGCGCGCGTGCGTACGCGCACATGCACTATTTGTTTTTGTTTGGAGACAGAATCGTGCTCTGCCTCAGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACCACCATGCCCAGTCACATGTACTATTTTATAAACTGCTTGAGTCACTTTATATATACCTATGTTATTAATGGCTTCATAATATTTCATTTTATAAAAAGTCCATAGTGTATCTGACCCAACTTTCCTCATACTAAATATTTAAGTTGTTTCCAACTGTTCTGTGCTTACCAAACAGGTTTGTAAGGAACACCCCCAAGGCTAAATCTCTACATTTGGCCTTCGTGACTTGCTTTGGATAAATCCCCTTACATGGAATTGCTGGGTCTACCCCACCCCACTGGGCTGTGGACCTGGGGACACCAAACCTGTTGCACCACCATTCAGTTTATATATATACATATATTTTTTAATAAGATAGAGTCTTGCTATATTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAATTAGGGATGACAGGCATGAGCCACCCATCCAGCTTGCCCCACCATTTTAGATCATTTAACTGTCACAGGTGTCTGTCCCTGTTTGGCCTCCTCTACTCTCCCCTAACTTGTGCAGAGGAATCACATCTTGCATAGCTCTGTCAACTGCCATTGCACCTATCACACGTAATACTCAAAGCAGATGCTTGAAAAAACTGTTTTTTTGGCTCATTTCCAACTTTACCTTTTCATTTTGTAGTCCATCTCGGGGACCAACTTCCACAATTTTCACCCGCTTTGGTAAAGTGCCCATAGATGAGGTGCTGACCTTTGGTTTAAAAGAGGAAACAAAAAGTATGAGGAAGAGATTGCCACAATTCCCAGGGAGACCAATATGAAAGAATGGATCTATCTTCACTAATAATGAGACAAGAAGAAATATTTCTCACCATTTAATTCACATTTGGTCTATTTTAGAATTAAGAACAAAAAGAATATTTCACTTAGTAACAGGAACAAGCAAGAGATTCATCCTTCCAGTACCGGTTCTCCCCTGAAGTCCAGACTCCTTTTCCACTGCCTACCTGACAGCTCTATTCGCATCTCTTCATATAGCAGTCCCGAAACAGAACTCTAATTTCTCCTAAAGCCCATCTGACTCCATCCTTTCCATCTCTGTCAAAGGCATCGCATGTACCCTACTGCATAAGCCAGAACTTCATTGAGCCATTTCACCTATTCACCATGGCCTATAGGACTCTGTATGCTGCTGTATGTATGTTAGAAGTAGTTTAAAAAGGCCAGGTATTGCGGGGGGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAAGCGGGCGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAAAATAGCCGGGTGTGGTGGTGCACGCCTGTAACTCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAAGTTGCAATGAGCCAAGATCGTGCCACTGTACTCCACCTTGGGCGACAGAGGAAGACTCCATTTCCAAAAAAAATAAAAAAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGAGGTTCGAGATCAGCCTGGCCAACATGATGAAGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGGAATGGACATGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGAATCGCTTGAGCCCAGAAGGTTGAGCCTGCAGTGAGCTATGACTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAATTAAATGACTCTATATGTCACTTGATGCTTTCCAATTAAGAAAAGAAAAGACTGTATGAGTTGCCTCCTCTGACCTCCTGGAATCATCACTCGCCCCTACTGTCCACTCCCAACCTCCACCCAACAGGTTGCTAAGCTCCCTGCCTTCTCTTCCCTCTGCCCCAGGGTTCCTCATCTGGCTTTTTTTAAAAAAACTGGCTGTTCTTACATCTCTCTCTCATCTTTCAGTTGCAGAGAGGCTTCCTCTGACCACCCTTTGCAAAGCTGCCATTCCTCCCACCCCCATTATTTTCGCTATTGCAGAGCTATAATTATTTCCTTCAAAGCACGATAAAGAATGCCTACTCAATGTCTCTTCCAGTAGAACATAAGCTCTTTGAGGGACCTTGTCTGTCTCAACTCCACTTCATCCCTAGTGTTTGGCACCGTGTTTGGTACAAAGTAGCCACTCTTTAAAGTTATTAAAATAACACATAAACCATGAAGGACACAGCTGTCCCAGAAGAGAGCAATTACTGAGTGTGGGGAGGAGTAGTCAGTCCTGGACTTTTCGGGGTATGGGCGAGATGCAGGAGGGCTCTCTTCTGTTACAGTCATAGGCTGGGTGATGACAAGCATGGGTCTAAGGGGAGGTGACACCCCCAGTAGCTGAAGACAGTTTTTACAAAATGCCCTGAGTCTCCTCTATATAAAGTCAGCTCAAAATCTTAGTCTTCCCTATCAAGTAACACAATACTTTTTTTTTCCTCTTTCCTCTACCTGTCTTGATACTGTAACTTTTCAAATCAACTTTGTTTTACAGATTTAATCTGGATAAATATACTACAACGAGGCAAAGCGGAAGGCACACTGTGTGATCCGCTAAGGATCTCAACCCCCTGAAGTCCCCCAGGAATTCCCTGCTAGGAAG
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TCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGGGCCTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGAGGAGGTTGAGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGATGCCATCTCCCAAAAACACACACACACACACGCGCGCGTGCGTACGCGCACATGCACTATTTGTTTTTGTTTGGAGACAGAATCGTGCTCTGCCTCAGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACCACCATGCCCAGTCACATGTACTATTTTATAAACTGCTTGAGTCACTTTATATATACCTATGTTATTAATGGCTTCATAATATTTCATTTTATAAAAAGTCCATAGTGTATCTGACCCAACTTTCCTCATACTAAATATTTAAGTTGTTTCCAACTGTTCTGTGCTTACCAAACAGGTTTGTAAGGAACACCCCCAAGGCTAAATCTCTACATTTGGCCTTCGTGACTTGCTTTGGATAAATCCCCTTACATGGAATTGCTGGGTCTACCCCACCCCACTGGGCTGTGGACCTGGGGACACCAAACCTGTTGCACCACCATTCAGTTTATATATATACATATATTTTTTAATAAGATAGAGTCTTGCTATATTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAATTAGGGATGACAGGCATGAGCCACCCATCCAGCTTGCCCCACCATTTTAGATCATTTAACTGTCACAGGTGTCTGTCCCTGTTTGGCCTCCTCTACTCTCCCCTAACTTGTGCAGAGGAATCACATCTTGCATAGCTCTGTCAACTGCCATTGCACCTATCACACGTAATACTCAAAGCAGATGCTTGAAAAAACTGTTTTTTTGGCTCATTTCCAACTTTACCTTTTCATTTTGTAGTCCATCTTGGGGACCAACTTCCACAATTTTCACCCGCTTTGGTAAAGTGCCCATAGATGAGGTGCTGACCTTTGGTTTAAAAGAGGAAACAAAAAGTATGAGGAAGAGATTGCCACAATTCCCAGGGAGACCAATATGAAAGAATGGATCTATCTTCACTAATAATGAGACAAGAAGAAATATTTCTCACCATTTAATTCACATTTGGTCTATTTTAGAATTAAGAACAAAAAGAATATTTCACTTAGTAACAGGAACAAGCAAGAGATTCATCCTTCCAGTACCGGTTCTCCCCTGAAGTCCAGACTCCTTTTCCACTGCCTACCTGACAGCTCTATTCGCATCTCTTCATATAGCAGTCCCGAAACAGAACTCTAATTTCTCCTAAAGCCCATCTGACTCCATCCTTTCCATCTCTGTCAAAGGCATCGCATGTACCCTACTGCATAAGCCAGAACTTCATTGAGCCATTTCACCTATTCACCATGGCCTATAGGACTCTGTATGCTGCTGTATGTATGTTAGAAGTAGTTTAAAAAGGCCAGGTATTGCGGGGGGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAAGCGGGCGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAAAATAGCCGGGTGTGGTGGTGCACGCCTGTAACTCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAAGTTGCAATGAGCCAAGATCGTGCCACTGTACTCCACCTTGGGCGACAGAGGAAGACTCCATTTCCAAAAAAAATAAAAAAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGAGGTTCGAGATCAGCCTGGCCAACATGATGAAGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGGAATGGACATGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGAATCGCTTGAGCCCAGAAGGTTGAGCCTGCAGTGAGCTATGACTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAATTAAATGACTCTATATGTCACTTGATGCTTTCCAATTAAGAAAAGAAAAGACTGTATGAGTTGCCTCCTCTGACCTCCTGGAATCATCACTCGCCCCTACTGTCCACTCCCAACCTCCACCCAACAGGTTGCTAAGCTCCCTGCCTTCTCTTCCCTCTGCCCCAGGGTTCCTCATCTGGCTTTTTTTAAAAAAACTGGCTGTTCTTACATCTCTCTCTCATCTTTCAGTTGCAGAGAGGCTTCCTCTGACCACCCTTTGCAAAGCTGCCATTCCTCCCACCCCCATTATTTTCGCTATTGCAGAGCTATAATTATTTCCTTCAAAGCACGATAAAGAATGCCTACTCAATGTCTCTTCCAGTAGAACATAAGCTCTTTGAGGGACCTTGTCTGTCTCAACTCCACTTCATCCCTAGTGTTTGGCACCGTGTTTGGTACAAAGTAGCCACTCTTTAAAGTTATTAAAATAACACATAAACCATGAAGGACACAGCTGTCCCAGAAGAGAGCAATTACTGAGTGTGGGGAGGAGTAGTCAGTCCTGGACTTTTCGGGGTATGGGCGAGATGCAGGAGGGCTCTCTTCTGTTACAGTCATAGGCTGGGTGATGACAAGCATGGGTCTAAGGGGAGGTGACACCCCCAGTAGCTGAAGACAGTTTTTACAAAATGCCCTGAGTCTCCTCTATATAAAGTCAGCTCAAAATCTTAGTCTTCCCTATCAAGTAACACAATACTTTTTTTTTCCTCTTTCCTCTACCTGTCTTGATACTGTAACTTTTCAAATCAACTTTGTTTTACAGATTTAATCTGGATAAATATACTACAACGAGGCAAAGCGGAAGGCACACTGTGTGATCCGCTAAGGATCTCAACCCCCTGAAGTCCCCCAGGAATTCCCTGCTAGGAAG
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Task1_train_591
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A mutation found in FUCA1 (alpha-L-fucosidase 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Fucosidosis
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CTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGTGGACCACTTCAGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCAAGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTATAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTTGGAGGCAGAGGTTGCAGTGAGCTGAGATTCTGCCACTGTACTCCAACCTGGGTGACAGAGTGAGACTGTCTAAAAAATAATAATAAAATAAAATAAAAATCCAGCCTGTGGGATTCAGTTATAGCAACAGAAAATGGACTAAGACAACCACTAAACAGAAACTCATCCAAAACAGAGGGATTAATAGAGGGATTAGATCCAGAGA
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CTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGTGGACCACTTCAGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCACGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTATAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTTGGAGGCAGAGGTTGCAGTGAGCTGAGATTCTGCCACTGTACTCCAACCTGGGTGACAGAGTGAGACTGTCTAAAAAATAATAATAAAATAAAATAAAAATCCAGCCTGTGGGATTCAGTTATAGCAACAGAAAATGGACTAAGACAACCACTAAACAGAAACTCATCCAAAACAGAGGGATTAATAGAGGGATTAGATCCAGAGA
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Task1_train_592
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This variant lies on Chromosome 1 and affects the gene FUCA1 (alpha-L-fucosidase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Fucosidosis
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AAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTATAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTTGGAGGCAGAGGTTGCAGTGAGCTGAGATTCTGCCACTGTACTCCAACCTGGGTGACAGAGTGAGACTGTCTAAAAAATAATAATAAAATAAAATAAAAATCCAGCCTGTGGGATTCAGTTATAGCAACAGAAAATGGACTAAGACAACCACTAAACAGAAACTCATCCAAAACAGAGGGATTAATAGAGGGATTAGATCCAGAGACCTAAGCTCTCTGGTATAATAAAAGCAGTTCCCTTTAATTGAACACTGAGTTTGTGCCTGGCACTCATCTCATTTAATCCTCACAACACTATAAAGCATCATCACTCCATTCTGCAGTGGAAAAAATGGGGCCCAAGATCAAATAACTAGATCCAGAAGTCCAAGTATGAATGGAAAGAATTTTGGATGGGGCTCCGTACAATCCAAGCATTCATTATTACTATTTTTAGGGGGCAGGGTAATAATCTCAATAAATTGACTGATGCTTTGTTGCTCCTTCCCTTTTCACCAAACCCACTCTCTCCCTTCACTAGTCAAAGATAACCAAGTAGCCTGAGACATAACTCAAATGGGGTACAAATTTTATAGGAAAATAACCTTCTGGATTTTCTCAAGGCAACTTCCAGCCTGGCTTGTGACATTGTGGACCCAAGGAGATACCAGTTCCGGATGGGGCACTGTTCTGTTCTTACACACAACAGAAGACAAGACTCACCATACAGATGTTGTGTTCTTTTCCCATTGCACCCGCCATGGTTTGGAGGCATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGGAACAATCAGTCCATCTTTAGTTGGTCCAATGTTCAGAAGATAGTTGCCTCCCAAACTTACTGTCTGAACCAGTTCCTGGAGAGAACAGAAACAATGAAAGTCTAGCTATGAATGCCAAGCCTGGCATCATGCTTAAAATAGACAGAGAAGAAAAAGAATCTAGGGCACACTCTGTTTTTTAAATATCCTCTGCTGTTTTAATTTTTTTTTTTTTCTTTTTGAGCTGGAGTTTCACTCTTGTCGCCCAGGCTAGAGTGCAATGGCGTGATCTTGGCTCAACTGCATCTCGGCTCACTGCAACCTCCACCTCCCTGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGAATTACAGGCATGCGCCACCACATCCAGCTAATATCATTCTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCCAGTCTCAAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATCACAAGCATGAGTCACCGCACCTGAGCTAAAAATTCTCTCTCTATATATATTTTTGTCACTATAAAAGCAGGTTAGGCTCATGTGAGTAAATGAAAAATCAGGCTATATTATATTAACTTGAATTTCAGGGAGTGGCCATGGAGCACTTCCTGTGACACTGTACTTCTCATGGTGCTGAGTGCAGTGGGAAGGGTCATGCCCCAGAAACATGAGGTGTGGGCAGGGAAGCTGAGAATTTCAGGACATTCCTTACGCATTGGGCTATATAAATGAACATGCTGCCCCTTTGGGAAAACTGCTATAAAGAGATACGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTTGTGATCCACCTATCTCAGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACCGTGCTCAGCCAAGAGATACATTCTTTAAGACTTCTGGAGTGGGATTTGGGTGTGTGTGTTTTTACTGTGACCTTGAACAGGTATTATACATATCCAGGCAGCTCAGAAAAACTAAGGTTATATAGAGAAAATTTTAAATTCATTACAGAATTTGAAGAATTCAGACAGGCATGGTGGATCACACCTGTAATCCCAGCACTTTGGGAAGCCAGGACAGGTGGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAGGCCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTAGGCACCTGTAGTCCCAGCTATGCGGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCAAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCATCTCAAAAAAAAAAAAAAAAGAATTAAAGAATTCATTATAAGAATTCATTACAGTACTCCAAGTGACACCACACCATTAACTTTTGATGTCTTCTTCTAGTCTTTTTCCTATGTAGTTAATTTTATATAGTTGTAATAATATGTAACTTATTTTATTTATTTATTATTATTTAAAAAAAATTTTTGTTTCAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCACATTGGCCAGGATGGTCTCGAATTCCTGACTTTGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCGTGCCTGGCCACTTATTTTTATTTTTTAAAATAGAGATGGGGTCTCACTATGTTGTTTAGGCTGGTCTTAAACTCCTGCCCTCAAG
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AAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTATAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTTGGAGGCAGAGGTTGCAGTGAGCTGAGATTCTGCCACTGTACTCCAACCTGGGTGACAGAGTGAGACTGTCTAAAAAATAATAATAAAATAAAATAAAAATCCAGCCTGTGGGATTCAGTTATAGCAACAGAAAATGGACTAAGACAACCACTAAACAGAAACTCATCCAAAACAGAGGGATTAATAGAGGGATTAGATCCAGAGACCTAAGCTCTCTGGTATAATAAAAGCAGTTCCCTTTAATTGAACACTGAGTTTGTGCCTGGCACTCATCTCATTTAATCCTCACAACACTATAAAGCATCATCACTCCATTCTGCAGTGGAAAAAATGGGGCCCAAGATCAAATAACTAGATCCAGAAGTCCAAGTATGAATGGAAAGAATTTTGGATGGGGCTCCGTACAATCCAAGCATTCATTATTACTATTTTTAGGGGGCAGGGTAATAATCTCAATAAATTGACTGATGCTTTGTTGCTCCTTCCCTTTTCACCAAACCCACTCTCTCCCTTCACTAGTCAAAGATAACCAAGTAGCCTGAGACATAACTCAAATGGGGTACAAATTTTATAGGAAAATAACCTTCTGGATTTTCTCAAGGCAACTTCCAGCCTGGCTTGTGACATTGTGGACCCAAGGAGATACCAGTTCCGGATGGGGCACTGTTCTGTTCTTACACACAACAGAAGACAAGACTCACCATACAGATGTTGTGTTCTTTTCCCATTGCACCCGCCATGGTTTGGAGGCATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGGAACAATCAGTCCATCTTTAGTTGGTCCAATGTTCAGAAGATAGTTGCCTTCCAAACTTACTGTCTGAACCAGTTCCTGGAGAGAACAGAAACAATGAAAGTCTAGCTATGAATGCCAAGCCTGGCATCATGCTTAAAATAGACAGAGAAGAAAAAGAATCTAGGGCACACTCTGTTTTTTAAATATCCTCTGCTGTTTTAATTTTTTTTTTTTTCTTTTTGAGCTGGAGTTTCACTCTTGTCGCCCAGGCTAGAGTGCAATGGCGTGATCTTGGCTCAACTGCATCTCGGCTCACTGCAACCTCCACCTCCCTGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGAATTACAGGCATGCGCCACCACATCCAGCTAATATCATTCTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCCAGTCTCAAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATCACAAGCATGAGTCACCGCACCTGAGCTAAAAATTCTCTCTCTATATATATTTTTGTCACTATAAAAGCAGGTTAGGCTCATGTGAGTAAATGAAAAATCAGGCTATATTATATTAACTTGAATTTCAGGGAGTGGCCATGGAGCACTTCCTGTGACACTGTACTTCTCATGGTGCTGAGTGCAGTGGGAAGGGTCATGCCCCAGAAACATGAGGTGTGGGCAGGGAAGCTGAGAATTTCAGGACATTCCTTACGCATTGGGCTATATAAATGAACATGCTGCCCCTTTGGGAAAACTGCTATAAAGAGATACGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTTGTGATCCACCTATCTCAGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACCGTGCTCAGCCAAGAGATACATTCTTTAAGACTTCTGGAGTGGGATTTGGGTGTGTGTGTTTTTACTGTGACCTTGAACAGGTATTATACATATCCAGGCAGCTCAGAAAAACTAAGGTTATATAGAGAAAATTTTAAATTCATTACAGAATTTGAAGAATTCAGACAGGCATGGTGGATCACACCTGTAATCCCAGCACTTTGGGAAGCCAGGACAGGTGGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAGGCCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTAGGCACCTGTAGTCCCAGCTATGCGGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCAAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCATCTCAAAAAAAAAAAAAAAAGAATTAAAGAATTCATTATAAGAATTCATTACAGTACTCCAAGTGACACCACACCATTAACTTTTGATGTCTTCTTCTAGTCTTTTTCCTATGTAGTTAATTTTATATAGTTGTAATAATATGTAACTTATTTTATTTATTTATTATTATTTAAAAAAAATTTTTGTTTCAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCACATTGGCCAGGATGGTCTCGAATTCCTGACTTTGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCGTGCCTGGCCACTTATTTTTATTTTTTAAAATAGAGATGGGGTCTCACTATGTTGTTTAGGCTGGTCTTAAACTCCTGCCCTCAAG
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Task1_train_593
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A mutation found in FUCA1, LOC126805661 (alpha-L-fucosidase 1| BRD4-independent group 4 enhancer GRCh37_chr1:24191742-24192941) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Fucosidosis
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TAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGACATCAAGTAGCATCGTAGTCTATGTTGGGTATCCTTCATCTAACCAGACATGGCCATGAACTTCTGTAACGGTGTCCCCTTTGGTCACGTGAAAACTGTGAAGCATCAAACACTGCCAATTCAAAGGCCAGAAGCCCTTCCGGCTACTTGCTATATGCAAACCTAGAAAACACACAGGAGTAGAAGGCCAAAAGCCCTTCAGGCTACTTGCTATATGCAAACCTAGAAAACACACGCAAGTAGAGGAGGTACAGAACTCTTGACAGCCAGATCCAAAGAGATAACAGAGTAACCATCCCTGGACACTCACCTCTTCCGGAGAGCTGTTCCCAATTCACCAACCAAATCCCGATGAGGCCCCACGTCTTTGGAGTTCCAGTTCCAAGACACAGGACTCGGCCAGTTTGTGAAGCCTTCGTGATGCTTTGTCGTCAAAACTACATACCTGTGGACAGCAAAACCACATGAGCAAAGGAAGTGGGCAGTGAACTTGCATGAACTTGCCCAGCATGCCTGAGGCTTTTTAAATAGCTGAAAGAACTTGACCACAACAAATGTACTTGTACCAGTGACTATATTAGTGATATCCAGGAAGCTGCTGCAGTCACAATTCCCCTTGGGCATTGCTCCAAGAATGGAAGCAGATTTGAGGAAGTCCCAACCCTCAGTCCCCAGCAAAGGAGGAGGCCCAGAGGGAAGGAAGGAGTGGGTAAGGGAAAAGAAGTGCACCTTAGCTCTCTGATTCTTCAACACTTCTGGTAGGAACGATTAACTTTCTTTCATTCTTTGCCCTGAAGGAGAAAGAGCTCTACTGGAAATGGCAGATAATAGAAAACTAAGCCATTTGCTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTG
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TAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGACATCAAGTAGCATCGTAGTCTATGTTGGGTATCCTTCATCTAACCAGACATGGCCATGAACTTCTGTAACGGTGTCCCCTTTGGTCACGTGAAAACTGTGAAGCATCAAACACTGCCAATTCAAAGGCCAGAAGCCCTTCCGGCTACTTGCTATATGCAAACCTAGAAAACACACAGGAGTAGAAGGCCAAAAGCCCTTCAGGCTACTTGCTATATGCAAACCTAGAAAACACACGCAAGTAGAGGAGGTACAGAACTCTTGACAGCCAGATCCAAAGAGATAACAGAGTAACCATCCCTGGACACTCACCTCTTCCGGAGAGCTGTTCCCAATTCACCAACCAAATCCCGATGAGGCCCCACGTCTTTGAAGTTCCAGTTCCAAGACACAGGACTCGGCCAGTTTGTGAAGCCTTCGTGATGCTTTGTCGTCAAAACTACATACCTGTGGACAGCAAAACCACATGAGCAAAGGAAGTGGGCAGTGAACTTGCATGAACTTGCCCAGCATGCCTGAGGCTTTTTAAATAGCTGAAAGAACTTGACCACAACAAATGTACTTGTACCAGTGACTATATTAGTGATATCCAGGAAGCTGCTGCAGTCACAATTCCCCTTGGGCATTGCTCCAAGAATGGAAGCAGATTTGAGGAAGTCCCAACCCTCAGTCCCCAGCAAAGGAGGAGGCCCAGAGGGAAGGAAGGAGTGGGTAAGGGAAAAGAAGTGCACCTTAGCTCTCTGATTCTTCAACACTTCTGGTAGGAACGATTAACTTTCTTTCATTCTTTGCCCTGAAGGAGAAAGAGCTCTACTGGAAATGGCAGATAATAGAAAACTAAGCCATTTGCTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTG
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Task1_train_594
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A mutation on Chromosome 1 affecting FUCA1 (alpha-L-fucosidase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Fucosidosis
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CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGCCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCT
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CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGTCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCT
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Task1_train_595
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The gene GRHL3 (grainyhead like transcription factor 3) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Van der Woude syndrome 2
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ATAATCCTGTACCCCTCTCCCGCTTAACAGTTTGGGGTACATCCTTCCAGATCTTTTCCTAAACATGTGTTAATTGTACTCAGAGATACACGTTTCTTCCACCCTCCCCACTTTGTACACACCCCGCTAGGGTTGACTCAATACAGTTGTTTTGAAGTAGGGACGTTTTGACACAGAGACATTTGACTTTGGCTAAAAATAAACGATTAAACTTTCAGGGTTTTTTTTTTTTTTAATAAGTACTGTAATGGATAAAACAGATGTTGCTCCCTTAACCCTGAGCCTGTGCTTGGTTCCATTCTCAGCACCTCCCTGCTCATCCCTGTGGCCAATTGGGCTGCTACAGTGTCTTATTTCGTGCATGCTGGATGGACCTAAACATTACACTGGATCAAAGGCCAGTGTGTCAGTTGCCTTGCACTCTAGCCAAAGACCCCCCTTTACCCCCAGAGAGAAGTACACTCAGCCCCTTTTCTTTCTCCCCAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATTCCTGACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGGTGAGGGCGCATCCCCGCTCCCCTATAGCATAGATATGTGTGTGCATATACAGAATGAGAGAAGATAGTGAACAGATCAGAGCTTTGGAATCCATGGGGGAAAGCATCCTAGAGCTGAGACGGGATTGCCATGTACTATTGTCCAAGTTGTACACTGTACAACCTGCATAGCTGTAATGCACAGCCCTGGGCTGAGGCTTCCCAGAGTGAATGTGAGCATTTATTCTCTTGGGGCTGTGTTTCTCTGCAGTCGATGCTCTTCCCAGATATCCTGAAAACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGGTAACTTGGTCTCCCTGGACCCTCAGACACCTGGGCAGTGGGCAGGAGGCTGCAGACAGAGCCCCACACTGTCCCCAGAGCATAGCAGGCACAATCAATTAATGAGAAGTGGGGGATGAAGGCAGATAGATAGAGGGAGACAGAATGATTCCCACATCCTGTCCCCGGGCTGTGATAGGGAGCTCAGAACTTGTACCTTATCAGAAAACTGAGGTTCTTTTATCCTTAGTTTTCCCTGGTTTTGTCACCCCTCAAGGTTCTCTCTAATTTTCATTGGGCCCTCATTATTCAGCAGGACTGTGGCTCAACAAAGCCATTAAATAGAACCCCCAAATTGAGGAAACTGGGGCCCAAGGAAGTAAGGTTATTTTCCAAGGTCAAACAGCAAGTCTGTAACATAGCCTCAGGCTTCCTGCCCCACTGCCCTCTAGGAGACTTCCTGCCTGGGAGCCCAGCCTCACTGTCCTCTCCCTCCTCCCTGCAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAAGGTGCGTTGGCCTGGAGCAGCTTCAGAAGGGGTGGAATGGGGCAAGATATACCTCCTCCTTGGGCTAGCCACGGACCCTGGGGAAAGGCTGTTTGATAATAGCCCATTGCCACAGGGTTGGGGAAACTGAGGCAAAAGGGCAGGCCATTGGAACCAGGCTCTAGGAAGAGGCCGGGAGTGACTGTGACCAACTGTGCTTGCAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCAGCGGGTCATTGACGTGGGTGAGAGCCTTCTCAAGCCTCCATTCCAGCTCCCCTCTCTCTCCCCACCCCCGCATCAATCAGGCCTTTTTCTTACTCACCCCTGTTTCCCTACCTGGCTCTGACCTCTGTCTCCAGGTCAAACACCGTGGGGTTTGCAAGGATTTGCATCTGTTGACTAGAAGTTGTGGCGTCTTTTCTGTATTGCTTTGGGATAAACAGGGCCCTGGGGACCCTAGCAGTGTGAGATAAATAGGCTCCTGCGATGCTGGCCTGTTTGTCTCCATCAGGAGGCTGATGAAGACACAAATGCACAAGATAAGGTGCAGGCAGCAGGTTCGGAAGGCCTGAGGCACAGCACAGGACGTTCAGCTTTTGGGAGCTGGGCGGGGGAAAGGCTCCCTGTGGGGGCCACCTGGTCCCCATCCCTAGCCCTGAAACAAGTGGGAGGCACAGCCCGCCCTCAAGTCTTCAGCTTCTGGCTCCCTTACTCCCTTCCTGGCTGTGTGATCTATGTCACCTCACCTTCCTGAGCCTCAGTTTGTTCAACTCTCAAATGGGCTGAGGCCAGCTGCCTTGCCTGCTTACAATGCTGATTTCAGCTTAGCAGCTATGTGCCCTGGGGAACATGATACACACGGGACTGTTTAATGACTTGTCCGAGAGGCTGGATAGCATAGCAGTGAGGAGCATGGGTTCAGGAGCCAGACAGATCTGAGCTTCAGCCCCTATTCTGCCTTTTATTAGCTGAGTGACCTTAGCCAAGTAACCAAACCTCTCTGAGCTTCGTTTTCCTCATATGTAAACTGAATACTCAAAGCATAGTTGTGAAGGATGAACTGAGGGCTTAGCATATTGTAAGTGTTGAAGAAATGGCACTTGCTAGTCCTACTACTTTTGCTACTGCTCTTACTCCCCCTATTACTGTTGTTATTACCATACTGCTGCTGCTGCTTCATCTGGGAGAAGTCCCAAATCACAGCCCTGGTGAAAAGTATAACCTCTACCCCCAACATGATGAGACTATTTGGCAAAGCTTGGGATTCCCTCTGGGGCTTTGGGCAGATCTGCTTCTCAGGCTGGACCTGTTTTCCCATCTGTAATCCAGGGCACAGGAATCCCTTTTCCTCCCTGGATTGAAGTGTGGTTCTTGGGGGAGAGAATGTATGCCCCTGCCAAGAGTGAGGCCCAGTTTTGTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTTACTTAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAAACCACGCCCGGCCGAGTGAGGCCCAGTTTTTAATGCCTCCCTCCTCAAGTGGTCCCAGATCCCTTCCTTCCTGATTCTCCTTCTGGTCTCCTGTGGTTTCAGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAGAGGCCAAGGTCAGTGCTGAGGGCAGTGGCTGGGATGGGACTGGGCTGCCTGGAAGTCCCTATTCTGGGGTAGAGGCTTTCTTGCACCTAGGATAGTGTCATTTGCTCCGACGAGGGCACTCATGGAGGAGGCAGGATGCAGTGTAGTATGGAAGCTTGGGCTTTGGAGCCAGGCAGGCTGGGTCCGCATCCCACCCTTCCACCTATTGGTCCAAAGTGTGACTTTGGACCAGTGCCTTAGTCCCTCTGAGCCTAAGTTGTTTTGACTATAAAATAGGAGTGGCATCATAGTACCAACTGGTAGGTTGTAGTGAGGAGCAGGTGAGATAAGTAAAAGG
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ATAATCCTGTACCCCTCTCCCGCTTAACAGTTTGGGGTACATCCTTCCAGATCTTTTCCTAAACATGTGTTAATTGTACTCAGAGATACACGTTTCTTCCACCCTCCCCACTTTGTACACACCCCGCTAGGGTTGACTCAATACAGTTGTTTTGAAGTAGGGACGTTTTGACACAGAGACATTTGACTTTGGCTAAAAATAAACGATTAAACTTTCAGGGTTTTTTTTTTTTTTAATAAGTACTGTAATGGATAAAACAGATGTTGCTCCCTTAACCCTGAGCCTGTGCTTGGTTCCATTCTCAGCACCTCCCTGCTCATCCCTGTGGCCAATTGGGCTGCTACAGTGTCTTATTTCGTGCATGCTGGATGGACCTAAACATTACACTGGATCAAAGGCCAGTGTGTCAGTTGCCTTGCACTCTAGCCAAAGACCCCCCTTTACCCCCAGAGAGAAGTACACTCAGCCCCTTTTCTTTCTCCCCAGGTACTACCATGGCATGGAATATGAGACGGACCTCACTCCCCTTGAAAGCCCCACACACCTCATGAAATTCCTGACAGAGAACGTGTCTGGAACCCCAGAGTACCCAGATTTGCTCAAGAAGAATAACCTGATGAGCTTGGAGGGGGCCTTGCCCACCCCTGGCAAGGCAGCTCCCCTCCCTGCAGGCCCCAGCAAGCTGGAGGCCGGCTCTGTGGACAGCTACCTGTTACCCACCACTGATATGTATGATAATGGCTCCCTCAACTCCTTGTTTGAGAGCATTCATGGGGTGCCGCCCACACAGCGCTGGCAGCCAGACAGCACCTTCAAAGATGACCCACAGGAGGTGAGGGCGCATCCCCGCTCCCCTATAGCATAGATATGTGTGTGCATATACAGAATGAGAGAAGATAGTGAACAGATCAGAGCTTTGGAATCCATGGGGGAAAGCATCCTAGAGCTGAGACGGGATTGCCATGTACTATTGTCCAAGTTGTACACTGTACAACCTGCATAGCTGTAATGCACAGCCCTGGGCTGAGGCTTCCCAGAGTGAATGTGAGCATTTATTCTCTTGGGGCTGTGTTTCTCTGCAGTCGATGCTCTTCCCAGATATCCTGAAAACCTCCCCGGAACCCCCATGTCCAGAGGACTACCCCAGCCTCAAAAGGTAACTTGGTCTCCCTGGACCCTCAGACACCTGGGCAGTGGGCAGGAGGCTGCAGACAGAGCCCCACACTGTCCCCAGAGCATAGCAGGCACAATCAATTAATGAGAAGTGGGGGATGAAGGCAGATAGATAGAGGGAGACAGAATGATTCCCACATCCTGTCCCCGGGCTGTGATAGGGAGCTCAGAACTTGTACCTTATCAGAAAACTGAGGTTCTTTTATCCTTAGTTTTCCCTGGTTTTGTCACCCCTCAAGGTTCTCTCTAATTTTCATTGGGCCCTCATTATTCAGCAGGACTGTGGCTCAACAAAGCCATTAAATAGAACCCCCAAATTGAGGAAACTGGGGCCCAAGGAAGTAAGGTTATTTTCCAAGGTCAAACAGCAAGTCTGTAACATAGCCTCAGGCTTCCTGCCCCACTGCCCTCTAGGAGACTTCCTGCCTGGGAGCCCAGCCTCACTGTCCTCTCCCTCCTCCCTGCAGTGACTTTGAATACACCCTGGGCTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGCCAGTTCTACCCCGTCACCCTGCGGACCCCAGCAGGTGGCAAAGGCCTTGCCTTGTCCTCCAACAAAGTCAAGGTGCGTTGGCCTGGAGCAGCTTCAGAAGGGGTGGAATGGGGCAAGATATACCTCCTCCTTGGGCTAGCCACGGACCCTGGGGAAAGGCTGTTTGATAATAGCCCATTGCCACAGGGTTGGGGAAACTGAGGCAAAAGGGCAGGCCATTGGAACCAGGCTCTAGGAAGAGGCCGGGAGTGACTGTGACCAACTGTGCTTGCAGAGTGTGGTGATGGTTGTCTTCGACAATGAGAAGGTCCCAGTAGAGCAGCTGCACTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGCCAAGCAGCGGGTCATTGACGTGGGTGAGAGCCTTCTCAAGCCTCCATTCCAGCTCCCCTCTCTCTCCCCACCCCCGCATCAATCAGGCCTTTTTCTTACTCACCCCTGTTTCCCTACCTGGCTCTGACCTCTGTCTCCAGGTCAAACACCGTGGGGTTTGCAAGGATTTGCATCTGTTGACTAGAAGTTGTGGCGTCTTTTCTGTATTGCTTTGGGATAAACAGGGCCCTGGGGACCCTAGCAGTGTGAGATAAATAGGCTCCTGCGATGCTGGCCTGTTTGTCTCCATCAGGAGGCTGATGAAGACACAAATGCACAAGATAAGGTGCAGGCAGCAGGTTCGGAAGGCCTGAGGCACAGCACAGGACGTTCAGCTTTTGGGAGCTGGGCGGGGGAAAGGCTCCCTGTGGGGGCCACCTGGTCCCCATCCCTAGCCCTGAAACAAGTGGGAGGCACAGCCCGCCCTCAAGTCTTCAGCTTCTGGCTCCCTTACTCCCTTCCTGGCTGTGTGATCTATGTCACCTCACCTTCCTGAGCCTCAGTTTGTTCAACTCTCAAATGGGCTGAGGCCAGCTGCCTTGCCTGCTTACAATGCTGATTTCAGCTTAGCAGCTATGTGCCCTGGGGAACATGATACACACGGGACTGTTTAATGACTTGTCCGAGAGGCTGGATAGCATAGCAGTGAGGAGCATGGGTTCAGGAGCCAGACAGATCTGAGCTTCAGCCCCTATTCTGCCTTTTATTAGCTGAGTGACCTTAGCCAAGTAACCAAACCTCTCTGAGCTTCGTTTTCCTCATATGTAAACTGAATACTCAAAGCATAGTTGTGAAGGATGAACTGAGGGCTTAGCATATTGTAAGTGTTGAAGAAATGGCACTTGCTAGTCCTACTACTTTTGCTACTGCTCTTACTCCCCCTATTACTGTTGTTATTACCATACTGCTGCTGCTGCTTCATCTGGGAGAAGTCCCAAATCACAGCCCTGGTGAAAAGTATAACCTCTACCCCCAACATGATGAGACTATTTGGCAAAGCTTGGGATTCCCTCTGGGGCTTTGGGCAGATCTGCTTCTCAGGCTGGACCTGTTTTCCCATCTGTAATCCAGGGCACAGGAATCCCTTTTCCTCCCTGGATTGAAGTGTGGTTCTTGGGGGAGAGAATGTATGCCCCTGCCAAGAGTGAGGCCCAGTTTTGTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTTACTTAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAAACCACGCCCGGCCGAGTGAGGCCCAGTTTTTAATGCCTCCCTCCTCAAGTGGTCCCAGATCCCTTCCTTCCTGATTCTCCTTCTGGTCTCCTGTGGTTTCAGCTGACTGCAAAGAAAACTTCAACACTGTGGAGCACATTGAGGAGGTGGCCTATAATGCACTGTCCTTTGTGTGGAACGTGAATGAAGAGGCCAAGGTCAGTGCTGAGGGCAGTGGCTGGGATGGGACTGGGCTGCCTGGAAGTCCCTATTCTGGGGTAGAGGCTTTCTTGCACCTAGGATAGTGTCATTTGCTCCGACGAGGGCACTCATGGAGGAGGCAGGATGCAGTGTAGTATGGAAGCTTGGGCTTTGGAGCCAGGCAGGCTGGGTCCGCATCCCACCCTTCCACCTATTGGTCCAAAGTGTGACTTTGGACCAGTGCCTTAGTCCCTCTGAGCCTAAGTTGTTTTGACTATAAAATAGGAGTGGCATCATAGTACCAACTGGTAGGTTGTAGTGAGGAGCAGGTGAGATAAGTAAAAGG
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Task1_train_596
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Given this context: Chromosome 1, gene GRHL3 (grainyhead like transcription factor 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Isolated cleft palate
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AAGCCACTGGGGGCACCCACGTTTCCTGACTTCTTGGCCAGCGCAGAATGTCGCATGCAGGAGAAATGCGAAGGAGTCCGGTGAATGAGGGCTCGAATCCCAGTTATCTCACTTCTCTGAGCCTGTAAAAATGAGAACAGTAACCTGCCTGCTAGGATTGGAGTGCAGAGCCCACAAGATCATGCATGTCTACAAACCGGAGAGGCCTGAGAGATGGAGCCTCTGGTGATGTTTTCATGCCAGTAGTTAAGCCATTAAGATTCTTCCAGCCTTAGTGCTTGAGCCCAGCCGCGGGCTTGCCATGTGCGCATGGGCCTCGCTGTGTCTTGGTTTGCTGTTTAGAGAGCCAGCATGGTGGAGAGGCACTAGTGTGGGAGTCAGGAGCTGAGCACCTTCGGCCTGTCCCTTCCCCTCCCTGGACCAGGCTTACCTCACTCAGCAGGGTCAGGTCCAGCTCATCTCAGGGGCATTTCTGGCCTGGAGAGGCTGGGGAGCTAACCCCTGCCTCCCTGCCTGCCTCCAGGGATGGCCAGGCTGCCTGGAGAAGATGGAGGTGCAGGAGCTCAGAAAACACAAAGGGAGCACAAAGGCAGGGATTATTATTATTCAGACTGGCACCGGGCTGGAGGAGGAGCTGGGGCCTTGGGTTCAGGGAGTGGGGAGTTTCGTGGGAAGGGAGAGATGGGTTTCGGTGGGGATTTTCTCACAGCCTTTTAAGCCCCCAGGCTTGGGTCTTTCTCAGGTGCGAGCTGGGCGGGGGCTGCATGAGGGCAGAGCTGGCTGAGGGGGAGGTATGTCTGGCATGTGCCTGGGGGCCTGGTCTGCACAGCCAGGGAAAGAAGGGGGTCTGCTCAGACACACCCCCCCACATCCTGTTTGCATCAGGGTCATTTCCAAAGGAAATGTTCCAAAGACCAGGGGCCAGCCTGCGTCGGGGGGACCGGGGTTCCCATGGAGCCCCAGAGGAGGACAATCACCAGGTGACCTTGCCAGGGTTTGCCCCGCTGAGACTGACCCCAGGCGACCATCAGTTGGGCATAGGCTTTGGGATGAGACTTCCAGCTGTCCCTCTCATGGCAACGGTTATAACATATCAAGCCTACACACCCCACAGCCACACAAGATAGGTTTCATTATCCTCATTCTGCAGACAAGGAAACCGAGGCTCAGTGAGGTGAAAGGATTTGTCTGAAGCCGTATATGGCTAGTGAGCGGCAGAGCCCAGCTTCCTGCAGCAGATGTGGGCGGCCCCTCCTCCAGGCTCACTTTGTTATGCCCCACGCCTGACTCCCTAGGGGAACGGCAGCAATTATAGCCCTGCTCAGAGCATCTGTTTCCCCGGCTGTAAGATGGGGTGACTAGGATGCTCCCTTGCTGTATGTGGGGTGGGATCAAATCAGCTGAAAGAACCTCTCACTAGAGGGTCCTGCTATGGCTGGAGTGGGTGGTTGGGGTGGAGAGGGGCTGTGTCTCTGGGCCAGCAGGAAAGTGGTCTCCTTGTGCTGGGGACAGGGGACTCAGCCCTTTTCCACCTCCTTGTCCTGAGTTGCAGAAAAACGAGGCTCTGGATCTTAAGCTCCTATAGGACTCTTGACATCCCCCCCAGTCTCCACCCCTTGGGCTGCCCTTGGCAGTCTAGCGGAAACTGTACCAACAGCGGTGAAAAGCCTGGGCTGTGAGTCTGGGTTCAAACCCCTGCTGCACCACACACTGCCCGTGTCACCTCGGGAAAGTTGCCCCACCTCTCTGAGCATTGGCTTCCCCATCTGTGAAAGAGGAGTGCTGATGTTTGCCTTCTAGGGGCCTAGTGAGGCTTAAGGGTGAGCAGCAGGCACACAGAAAGCTAGAAATACAGGATCACTGTGGGACGGTGGGGCTGGCCACCTGGGCAGGCCACTTACCCAGCGGCCCCCTCTGTCTCCAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTCCCCCTGAACCTGCAGATTGACACCTATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGTGGCTGGACTGGGCAGACCCTATACTGGGTCCCGGGGAGGTAGAAGGGCCAAACCCTGACCCGTGCGTCCTCCTAGCTTCTCTGGGTTGTCTGTCTCTCTCTGTTTTTCTATCCCTTCTCCTCCTTCCCCTCTCCTCCTCCACCCCCACTCCTCCATCTCTCTGTCTCTCTGAGTTTCTTCTTTTCTGTCTTCTGTCTGTCCGCCTCTCTCATGGCCTGTAGTGACCTCAGGCAAGCAGGGCCAGGCCCCACTGGCCAGGCTGGGCCAGGTAAGTGCTGGTACCTTCCCATTTCCTGGTCTTGTTCTGGAAAAAAGAAGGACCAGAAGCTTGGCCCATATTTAAGATGCAAAGCAGCAGCTGTGAAAGTAGCTAGCCCCTCCCAGGCCCTTGGTGACCCTCTCTCCTTCTCCCCTGCAGGGAGCTGAGAGGAAGATGCGCGATGACGAGCGGAAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGTCAGTGGGGATCCAGGGCCTGGGTGGGCTCGGCTGGCGTGAAGGGGAGAAGGAGACCAGAGGTGGGAGGGACTTGAGTGGAGGGACCTCGGGGCACATTGGCTTCCTTCTCCCATCAGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTACCTTCGGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGTGAGGCCAGGGCTGGGGTCTCGGGAAGGAGCCGAGAGAGGGTCCTGGCTCCTAGGTGGGGCCTGCCTTAGCACAGACCAGTGGGGAGCAGCCTGCCCCTCAGCCAGTTTCAAGACCTTTATTGAATCATAGGGGTTTAAACATGTATATATGGTCCTATAGCTTCAGTGACCTATTGTATTGAAGAGAAGAATGTTATGAAGAAACAGATTTCGTAACCATTAAAACGTTCATGCTTAGGGCACACAAAGAGGAGGCTTCTGATATCTGACCCCAAATTTGATTGCAGCCCCATGGAATTCTCACGGCAGCACTTGTGGTGCTCACTGTGTGCCAGGTGCGGCTCTGAGCGCTTCCCAGGCATCACCGTCCTTACCCTTCTCTACAGCCCTGGGAAGTCAATAATAATGTCTCCCTGGATCTGTGGGGTAGAAATGGAGGCACAGAGAAGTTAAGAAACCTCCTGAGATTGCACAGCTAGTAAGTGGCAGAGCCAGGATCTGGACTGAGGCACCTGTTCAGAATCCACACCTTTCCCCACTAGCTGCTCCGCCTCTCAAGCAGCCGGGACTGAGCGCCTGGCAGCCAGGAGTGGGCTGGGTTCCCTGTTACAGCTGTCCTCCGAGAGACTGCACCTACCCCCTTTTCCAGGCACGGTCCCACAACAATTCAATGGCAGGGTCAAGACCCCAGAGCCTGTCTCCTAGTGCGCTTCCATACTGGAGAGTCTGAGCATTTCCTTCCTTTAAGGGTACAGCTCCGCACTGTTTCTTCAGGAATATTTATACAAATGGACCTTGGTGTACAAGGCATGTTTAGTGTATTGACTTAGGACAATGAGGTGTAGACAGTGGCGCTGAGAAGAGCGGCCAGTGCTGACAGAGCTTGGCACAGGCGCAGAGCACTGTCTGTGTCCCTCCTCTCTTTGCCATCTTGGGAGCTGCGCTGTGGCCCCGCAGCACAGGCGGCTGTGTGAACCTGTTCTCTCTTGGCTCTCCTCACTCTCTCACCAACTAGAGGCCCTCAGTAAGGAGATGACCACTCAGGGTGAAGGCCCCTGTGGCTAGGTTGACAGTCAACCTGTGGGGGTTGAGGGTGGGCCAGTCTCCACACCTGTGAGCCTGGGAGAGGGGAAGCCCAGGGCAATAGCCAACAGAGAGCCTGAGTTTGAACCCTGACTCTGCCTCCTGCCGGGCGTGTCATCTCTAGAGCTCTCTGCTCTCTCTAGGCCTCAGCTTCTTACCTCACAAGACTGACTGAT
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AAGCCACTGGGGGCACCCACGTTTCCTGACTTCTTGGCCAGCGCAGAATGTCGCATGCAGGAGAAATGCGAAGGAGTCCGGTGAATGAGGGCTCGAATCCCAGTTATCTCACTTCTCTGAGCCTGTAAAAATGAGAACAGTAACCTGCCTGCTAGGATTGGAGTGCAGAGCCCACAAGATCATGCATGTCTACAAACCGGAGAGGCCTGAGAGATGGAGCCTCTGGTGATGTTTTCATGCCAGTAGTTAAGCCATTAAGATTCTTCCAGCCTTAGTGCTTGAGCCCAGCCGCGGGCTTGCCATGTGCGCATGGGCCTCGCTGTGTCTTGGTTTGCTGTTTAGAGAGCCAGCATGGTGGAGAGGCACTAGTGTGGGAGTCAGGAGCTGAGCACCTTCGGCCTGTCCCTTCCCCTCCCTGGACCAGGCTTACCTCACTCAGCAGGGTCAGGTCCAGCTCATCTCAGGGGCATTTCTGGCCTGGAGAGGCTGGGGAGCTAACCCCTGCCTCCCTGCCTGCCTCCAGGGATGGCCAGGCTGCCTGGAGAAGATGGAGGTGCAGGAGCTCAGAAAACACAAAGGGAGCACAAAGGCAGGGATTATTATTATTCAGACTGGCACCGGGCTGGAGGAGGAGCTGGGGCCTTGGGTTCAGGGAGTGGGGAGTTTCGTGGGAAGGGAGAGATGGGTTTCGGTGGGGATTTTCTCACAGCCTTTTAAGCCCCCAGGCTTGGGTCTTTCTCAGGTGCGAGCTGGGCGGGGGCTGCATGAGGGCAGAGCTGGCTGAGGGGGAGGTATGTCTGGCATGTGCCTGGGGGCCTGGTCTGCACAGCCAGGGAAAGAAGGGGGTCTGCTCAGACACACCCCCCCACATCCTGTTTGCATCAGGGTCATTTCCAAAGGAAATGTTCCAAAGACCAGGGGCCAGCCTGCGTCGGGGGGACCGGGGTTCCCATGGAGCCCCAGAGGAGGACAATCACCAGGTGACCTTGCCAGGGTTTGCCCCGCTGAGACTGACCCCAGGCGACCATCAGTTGGGCATAGGCTTTGGGATGAGACTTCCAGCTGTCCCTCTCATGGCAACGGTTATAACATATCAAGCCTACACACCCCACAGCCACACAAGATAGGTTTCATTATCCTCATTCTGCAGACAAGGAAACCGAGGCTCAGTGAGGTGAAAGGATTTGTCTGAAGCCGTATATGGCTAGTGAGCGGCAGAGCCCAGCTTCCTGCAGCAGATGTGGGCGGCCCCTCCTCCAGGCTCACTTTGTTATGCCCCACGCCTGACTCCCTAGGGGAACGGCAGCAATTATAGCCCTGCTCAGAGCATCTGTTTCCCCGGCTGTAAGATGGGGTGACTAGGATGCTCCCTTGCTGTATGTGGGGTGGGATCAAATCAGCTGAAAGAACCTCTCACTAGAGGGTCCTGCTATGGCTGGAGTGGGTGGTTGGGGTGGAGAGGGGCTGTGTCTCTGGGCCAGCAGGAAAGTGGTCTCCTTGTGCTGGGGACAGGGGACTCAGCCCTTTTCCACCTCCTTGTCCTGAGTTGCAGAAAAACGAGGCTCTGGATCTTAAGCTCCTATAGGACTCTTGACATCCCCCCCAGTCTCCACCCCTTGGGCTGCCCTTGGCAGTCTAGCGGAAACTGTACCAACAGCGGTGAAAAGCCTGGGCTGTGAGTCTGGGTTCAAACCCCTGCTGCACCACACACTGCCCGTGTCACCTCGGGAAAGTTGCCCCACCTCTCTGAGCATTGGCTTCCCCATCTGTGAAAGAGGAGTGCTGATGTTTGCCTTCTAGGGGCCTAGTGAGGCTTAAGGGTGAGCAGCAGGCACACAGAAAGCTAGAAATACAGGATCACTGTGGGACGGTGGGGCTGGCCACCTGGGCAGGCCACTTACCCAGCGGCCCCCTCTGTCTCCAGGTGTTCATCGGCGTAAACTGTCTGAGCACAGACTTTTCCTCACAAAAGGGGGTGAAGGGTGTCCCCCTGAACCTGCAGATTGACACCTATGACTGTGGCTTGGGCACTGAGCGCCTGGTACACCATGCTGTCTGCCAGATCAAGATCTTCTGTGACAAGGTGGCTGGACTGGGCAGACCCTATACTGGGTCCCGGGGAGGTAGAAGGGCCAAACCCTGACCCGTGCGTCCTCCTAGCTTCTCTGGGTTGTCTGTCTCTCTCTGTTTTTCTATCCCTTCTCCTCCTTCCCCTCTCCTCCTCCACCCCCACTCCTCCATCTCTCTGTCTCTCTGAGTTTCTTCTTTTCTGTCTTCTGTCTGTCCGCCTCTCTCATGGCCTGTAGTGACCTCAGGCAAGCAGGGCCAGGCCCCACTGGCCAGGCTGGGCCAGGTAAGTGCTGGTACCTTCCCATTTCCTGGTCTTGTTCTGGAAAAAAGAAGGACCAGAAGCTTGGCCCATATTTAAGATGCAAAGCAGCAGCTGTGAAAGTAGCTAGCCCCTCCCAGGCCCTTGGTGACCCTCTCTCCTTCTCCCCTGCAGGGAGCTGAGAGGAAGATGCGCGATGACGAGCGGAAGCAGTTCCGGAGGAAGGTCAAGTGCCCTGACTCCAGCAACAGTGGTCAGTGGGGATCCAGGGCCTGGGTGGGCTCGGCTGGCGTGAAGGGGAGAAGGAGACCAGAGGTGGGAGGGACTTGAGTGGAGGGACCTCGGGGCACATTGGCTTCCTTCTCCCATCAGGCGTCAAGGGCTGCCTGCTGTCGGGCTTCAGGGGCAATGAGACGACCTACCTTCGGCCAGAGACTGACCTGGAGACGCCACCCGTGCTGTTCATCCCCAATGTGCACTTCTCCAGCCTGCAGCGCTCTGGAGGGGTGAGGCCAGGGCTGGGGTCTCGGGAAGGAGCCGAGAGAGGGTCCTGGCTCCTAGGTGGGGCCTGCCTTAGCACAGACCAGTGGGGAGCAGCCTGCCCCTCAGCCAGTTTCAAGACCTTTATTGAATCATAGGGGTTTAAACATGTATATATGGTCCTATAGCTTCAGTGACCTATTGTATTGAAGAGAAGAATGTTATGAAGAAACAGATTTCGTAACCATTAAAACGTTCATGCTTAGGGCACACAAAGAGGAGGCTTCTGATATCTGACCCCAAATTTGATTGCAGCCCCATGGAATTCTCACGGCAGCACTTGTGGTGCTCACTGTGTGCCAGGTGCGGCTCTGAGCGCTTCCCAGGCATCACCGTCCTTACCCTTCTCTACAGCCCTGGGAAGTCAATAATAATGTCTCCCTGGATCTGTGGGGTAGAAATGGAGGCACAGAGAAGTTAAGAAACCTCCTGAGATTGCACAGCTAGTAAGTGGCAGAGCCAGGATCTGGACTGAGGCACCTGTTCAGAATCCACACCTTTCCCCACTAGCTGCTCCGCCTCTCAAGCAGCCGGGACTGAGCGCCTGGCAGCCAGGAGTGGGCTGGGTTCCCTGTTACAGCTGTCCTCCGAGAGACTGCACCTACCCCCTTTTCCAGGCACGGTCCCACAACAATTCAATGGCAGGGTCAAGACCCCAGAGCCTGTCTCCTAGTGCGCTTCCATACTGGAGAGTCTGAGCATTTCCTTCCTTTAAGGGTACAGCTCCGCACTGTTTCTTCAGGAATATTTATACAAATGGACCTTGGTGTACAAGGCATGTTTAGTGTATTGACTTAGGACAATGAGGTGTAGACAGTGGCGCTGAGAAGAGCGGCCAGTGCTGACAGAGCTTGGCACAGGCGCAGAGCACTGTCTGTGTCCCTCCTCTCTTTGCCATCTTGGGAGCTGCGCTGTGGCCCCGCAGCACAGGCGGCTGTGTGAACCTGTTCTCTCTTGGCTCTCCTCACTCTCTCACCAACTAGAGGCCCTCAGTAAGGAGATGACCACTCAGGGTGAAGGCCCCTGTGGCTAGGTTGACAGTCAACCTGTGGGGGTTGAGGGTGGGCCAGTCTCCACACCTGTGAGCCTGGGAGAGGGGAAGCCCAGGGCAATAGCCAACAGAGAGCCTGAGTTTGAACCCTGACTCTGCCTCCTGCCGGGCGTGTCATCTCTAGAGCTCTCTGCTCTCTCTAGGCCTCAGCTTCTTACCTCACAAGACTGACTGAT
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Task1_train_597
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The following genetic variant occurs in RHD, RSRP1 (Rh blood group D antigen| arginine and serine rich protein 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hemolytic disease of fetus and newborn, RH-induced
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ACATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAAAAATTAGCCAGGCGTGGTGGCGCGCGCCTGTGGTTCCCACTGAAGCACAGGAGGCTGAAGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGAGACTCTGTCTCGAAAAAAAAAAATTGTCTACATGCTGGTTGCAGAAAATTTAAACACTAAAACTAAAAAAGTAAAACACCTCCCAAACTTAGAGACAATATTAATGACGGAAAAAAAATTCTTCAAGATCTCTCTCTCTCCAGTCATTTATTCATGTGCGAAAACAGTTGGTGATTATTGATAAAATAGCTTTTAGAGTTTGGAGCAATTATGTGCATTACATATACCATTTGATTCTGGCAACCTAATGAAGGAGTATGATCATTTCCCCTATTTAACAGACAAGAACAAGAAGAGGGAGGGCAGATGGTGTGGTAGTCTAAGGCACAGGCTCCAGCAGATTATCTAGGTGTAAATCTTGGCTGTAGGCCAGGCCCTGTGGCTCATGTCTGTAATCCCATCACTTTGGGAAACCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATAGCGAAACCCCTTCTCTATTAAAAATACAAAAATTAGCCGGGCACGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGTACTCCAGCCTGGGTGACGAGTGAAACTCTATCTCGATATTAAAAAAAAAAATCTTAGCTCTACCCACCGGGGCAAGTTACGTAACGCCTCTGTGCCTTGGTTTTCATATCTGTAAAATGGTGACAGTAACAGCACCCACGTCAAAGTGTGGTTGTGAGAACGAAACAAGATAGTCTATGTAAAGTGATTAAAACAGCGTAGGCACATGGTAAACGCTTAGGAAATGTAGGCTGTTATAAAGCTCAGAGATGTTAAGTAACTAGATCAAGATCACACAGTTAGAGGGTGCCAGAGTCCTGATTTGAACCCAAGTTTGTCTCGTTCTGGAGCTCAAGCTGCTAACCCTTTTTCAAAACTGGAATTAAACCAAAGTGCTCACCCTCCGCTTTGCTGGGCCCCTCCCTGCCCTCAGGTGCGTCTCTTCCACTCACCTGCCACAGCAGCCTCTGCTCAGGGTCTGAGACCGGGAAAGGTGAGGGCTACCCAGGTGGCCCTGATGTTTTCTGCCAGCCAGCTCACCAGGTCCCTCGCAGCAGGCGGCAAAGGGAGGGAGGTTTGCTGTGAAGATTATGTGGTTCCCAACAACAAGAGCGCTGGGCCTATCTCTGCCCTCTCTTTTCTGTGTGTCCTGGGACAAGTCACTTGGCTTCTGTGGCTTCATTTTCTCATGTGCCCAGCCAGGGGGTTGGCCCTCATATGCAATAACAGCAGCAATGACCTTTACTGAGTGTCCATGTGCGTCAAGCACGTGTGCTTTACACTTGTTCTTATTATTAGGTTTAATAATAGAATAATTGCCACATTTACTGAGCACTCATTATGGGCCAGGCCCTGCCCTAAGTGCTTAATTAGCTTTAGCTCCTCTAATCCTTATCTTATCCCCACACGGCATGTTATGTTATCCCCATTATTCAGTTGAGAACATTGAGGCTCAAAGAGGCAAAGTAACTTGACCAAATACTTGTAAACGATCTTGCATGCCCCTTCCAGCTGCCATTTAGTAAGACTCTAATTTCATACCACCCTAAATCTCGTCTGCTTCCCCCTCGTCCTTCTCGCCATCTCCCCACCGAGCAGTTGGCCAAGATCTGACCGTGATGGCGGCCATTGGCTTGGGCTTCCTCACCTCGAGTTTCCGGAGACACAGCTGGAGCAGTGTGGCCTTCAACCTCTTCATGCTGGCGCTTGGTGTGCAGTGGGCAATCCTGCTGGACGGCTTCCTGAGCCAGTTCCCTTCTGGGAAGGTGGTCATCACACTGTTCAGGTATTGGGATGGTGGCTGGATCACTTCTGGGTCATAGAGGGAATGGACCCCGAAAGGACAGGTTCCAGAAGATCTGGGATATTGCCCCCTCTCTGTCTAGCACCAGTGCTGTGCAATATTTAGGACATCCTTATACTAAAAGATTATTCATTGTTTAAAATTCAAATTAACTGGGCATCCTGTATTTTACTGGACAGCCCTACTCCGTGTATCACAAGGAATCCAGGCCTACATTCCTCCTGCATCCTTTCTTTCCTGTTATTGTCGATTATGATTTTGTAAAGTTACATAATCAATATAAGTTTATGGAAAACGTAAGAAGGAAACACGTTAGACAGAGAGAAATAGACATGCCACACCTAGAGAGACATTCTATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCTATCTCGGCACACCACAACCTCAGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGATTACAGGCATGTGCCACCGCGCCTGGCTGATTTTGTATTTTTAGTAGAGATAGGGTTTCTCCGTGTTGGTCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGTCCAGCCTGAGAGACATTCTCTTGAAAAGAAAGGACTTTCAGCCCCCTAATGCTGCTAGACAATAAATAGCCATGCCTTTATTTTCATTAAATTACCTGTGCTTTGTTTACATGCATTTGTGTGAAATGCTAAGAACCATCACAACTAATGTATGGTGCCAGAAGTCAGAATAGTTGTTACCTGGGCAGGAGGTGGATATTGATTAGGAAGGAACACAAAATAACCGCATGGGGTGCAGAAAATGTTCTCTATGTTCACCTGGGTGATGATTACACATCAAGCTATACACGTTTTAAAAGGGCATTGGCACTTAATAGGAGGAAGTAGGCTAAATTTTTTCCTGAAACATTGTTTTGTTTTGTTCAAACCTCTGAATCCCTGTGCTGCCCAGATGATGGTAAACGTCATCCTAGGCATCTTAGGGACCTCTCAAGGCCATTCCAGCCTCCCCTTCTAAGACCCTGCTAAACCTCTGGGCACTGCTGTTAAACATTTCTCTATGAGCCAGGAACTGTGCTGAGCACTCCACAAATATTATTTTGTTTAACTCTTCCGGGTAGGGATCTAACCTGGTATACAGGTAAGGAAGTGGAAGCTCAGAGAGGGCAAGGCACTTGCCTAGGGCCACACAGCTAAGTGGTGGAGATGGCTCCAACTTTTTATTATAACCTTTTCCACATGCTCCAGAGTGCTCAGAACATGAAACACAGTCTAGCCAGCTCCCGATTGGCCCTGGAGGGAAAAAACTTTATATATTTTTCTTTTTTAAAAGGTTTAGAGGCTGGGCATGGTGGTTCACACCTGTAATCCCAGTACTTTTGGGAACCGAGGTGGGCAGATCACTTGAGCCCAGAAGTTTAAGACCAGCCTGACTAACACAGTGAGATCCTGTCTCTGCAGAAAATAGAAAAATCAGCTAGGCGTGGTGGTGTGCACCCACAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACCTGAACCCAGTGAGGTTGAGGCTGAGTGAGCCATGATCGTGCCACTTCACTCCAGCCTGGACAACAGAGTGAGACCCTGTCTCAAAAAACAGTTTTAGGGGCCGGGCGCAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGGGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACTCGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAACCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAA
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ACATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAAAAATTAGCCAGGCGTGGTGGCGCGCGCCTGTGGTTCCCACTGAAGCACAGGAGGCTGAAGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGAGACTCTGTCTCGAAAAAAAAAAATTGTCTACATGCTGGTTGCAGAAAATTTAAACACTAAAACTAAAAAAGTAAAACACCTCCCAAACTTAGAGACAATATTAATGACGGAAAAAAAATTCTTCAAGATCTCTCTCTCTCCAGTCATTTATTCATGTGCGAAAACAGTTGGTGATTATTGATAAAATAGCTTTTAGAGTTTGGAGCAATTATGTGCATTACATATACCATTTGATTCTGGCAACCTAATGAAGGAGTATGATCATTTCCCCTATTTAACAGACAAGAACAAGAAGAGGGAGGGCAGATGGTGTGGTAGTCTAAGGCACAGGCTCCAGCAGATTATCTAGGTGTAAATCTTGGCTGTAGGCCAGGCCCTGTGGCTCATGTCTGTAATCCCATCACTTTGGGAAACCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATAGCGAAACCCCTTCTCTATTAAAAATACAAAAATTAGCCGGGCACGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGTACTCCAGCCTGGGTGACGAGTGAAACTCTATCTCGATATTAAAAAAAAAAATCTTAGCTCTACCCACCGGGGCAAGTTACGTAACGCCTCTGTGCCTTGGTTTTCATATCTGTAAAATGGTGACAGTAACAGCACCCACGTCAAAGTGTGGTTGTGAGAACGAAACAAGATAGTCTATGTAAAGTGATTAAAACAGCGTAGGCACATGGTAAACGCTTAGGAAATGTAGGCTGTTATAAAGCTCAGAGATGTTAAGTAACTAGATCAAGATCACACAGTTAGAGGGTGCCAGAGTCCTGATTTGAACCCAAGTTTGTCTCGTTCTGGAGCTCAAGCTGCTAACCCTTTTTCAAAACTGGAATTAAACCAAAGTGCTCACCCTCCGCTTTGCTGGGCCCCTCCCTGCCCTCAGGTGCGTCTCTTCCACTCACCTGCCACAGCAGCCTCTGCTCAGGGTCTGAGACCGGGAAAGGTGAGGGCTACCCAGGTGGCCCTGATGTTTTCTGCCAGCCAGCTCACCAGGTCCCTCGCAGCAGGCGGCAAAGGGAGGGAGGTTTGCTGTGAAGATTATGTGGTTCCCAACAACAAGAGCGCTGGGCCTATCTCTGCCCTCTCTTTTCTGTGTGTCCTGGGACAAGTCACTTGGCTTCTGTGGCTTCATTTTCTCATGTGCCCAGCCAGGGGGTTGGCCCTCATATGCAATAACAGCAGCAATGACCTTTACTGAGTGTCCATGTGCGTCAAGCACGTGTGCTTTACACTTGTTCTTATTATTAGGTTTAATAATAGAATAATTGCCACATTTACTGAGCACTCATTATGGGCCAGGCCCTGCCCTAAGTGCTTAATTAGCTTTAGCTCCTCTAATCCTTATCTTATCCCCACACGGCATGTTATGTTATCCCCATTATTCAGTTGAGAACATTGAGGCTCAAAGAGGCAAAGTAACTTGACCAAATACTTGTAAACGATCTTGCATGCCCCTTCCAGCTGCCATTTAGTAAGACTCTAATTTCATACCACCCTAAATCTCGTCTGCTTCCCCCTCGTCCTTCTCGCCATCTCCCCACCGAGCAGTTGGCCAAGATCTGACCGTGATGGCGGCCATTGGCTTGGGCTTCCTCACCTCGAGTTTCCGGAGACACAGCTGGAGCAGTGTGGCCTTCAACCTCTTCATGCTGGCGCTTGGTGTGCAGTGGGCAATCCTGCTGGACGGCTTCCTGAGCCAGTTCCCTTCTGGGAAGGTGGTCATCACACCGTTCAGGTATTGGGATGGTGGCTGGATCACTTCTGGGTCATAGAGGGAATGGACCCCGAAAGGACAGGTTCCAGAAGATCTGGGATATTGCCCCCTCTCTGTCTAGCACCAGTGCTGTGCAATATTTAGGACATCCTTATACTAAAAGATTATTCATTGTTTAAAATTCAAATTAACTGGGCATCCTGTATTTTACTGGACAGCCCTACTCCGTGTATCACAAGGAATCCAGGCCTACATTCCTCCTGCATCCTTTCTTTCCTGTTATTGTCGATTATGATTTTGTAAAGTTACATAATCAATATAAGTTTATGGAAAACGTAAGAAGGAAACACGTTAGACAGAGAGAAATAGACATGCCACACCTAGAGAGACATTCTATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCTATCTCGGCACACCACAACCTCAGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGATTACAGGCATGTGCCACCGCGCCTGGCTGATTTTGTATTTTTAGTAGAGATAGGGTTTCTCCGTGTTGGTCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGTCCAGCCTGAGAGACATTCTCTTGAAAAGAAAGGACTTTCAGCCCCCTAATGCTGCTAGACAATAAATAGCCATGCCTTTATTTTCATTAAATTACCTGTGCTTTGTTTACATGCATTTGTGTGAAATGCTAAGAACCATCACAACTAATGTATGGTGCCAGAAGTCAGAATAGTTGTTACCTGGGCAGGAGGTGGATATTGATTAGGAAGGAACACAAAATAACCGCATGGGGTGCAGAAAATGTTCTCTATGTTCACCTGGGTGATGATTACACATCAAGCTATACACGTTTTAAAAGGGCATTGGCACTTAATAGGAGGAAGTAGGCTAAATTTTTTCCTGAAACATTGTTTTGTTTTGTTCAAACCTCTGAATCCCTGTGCTGCCCAGATGATGGTAAACGTCATCCTAGGCATCTTAGGGACCTCTCAAGGCCATTCCAGCCTCCCCTTCTAAGACCCTGCTAAACCTCTGGGCACTGCTGTTAAACATTTCTCTATGAGCCAGGAACTGTGCTGAGCACTCCACAAATATTATTTTGTTTAACTCTTCCGGGTAGGGATCTAACCTGGTATACAGGTAAGGAAGTGGAAGCTCAGAGAGGGCAAGGCACTTGCCTAGGGCCACACAGCTAAGTGGTGGAGATGGCTCCAACTTTTTATTATAACCTTTTCCACATGCTCCAGAGTGCTCAGAACATGAAACACAGTCTAGCCAGCTCCCGATTGGCCCTGGAGGGAAAAAACTTTATATATTTTTCTTTTTTAAAAGGTTTAGAGGCTGGGCATGGTGGTTCACACCTGTAATCCCAGTACTTTTGGGAACCGAGGTGGGCAGATCACTTGAGCCCAGAAGTTTAAGACCAGCCTGACTAACACAGTGAGATCCTGTCTCTGCAGAAAATAGAAAAATCAGCTAGGCGTGGTGGTGTGCACCCACAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACCTGAACCCAGTGAGGTTGAGGCTGAGTGAGCCATGATCGTGCCACTTCACTCCAGCCTGGACAACAGAGTGAGACCCTGTCTCAAAAAACAGTTTTAGGGGCCGGGCGCAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGGGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACTCGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAACCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAA
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Task1_train_598
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Consider this mutation in RHD, RSRP1 (Rh blood group D antigen| arginine and serine rich protein 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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AGGTTCAGGAGGCCTGGGGTATGCAGATTTCAACCCTCTTGGCCTTTGTTTCCTTGTCTGTAAAATGTGGTTAGCTGGTATCAGCTTGAGAGCTCGGAGGGGAGACGTGACTTCCCCATCTAACTCTAAGTGACAAGGCTGAGACTCTCCAGCCCTAGGATTCTCATCCAAAACCCCTCGAGGCTCAGACCTTTGGAGCAGGAGTGTGATTCTGGCCAACCACCCTCTCTGGCCCCCAGGCGCCCTCTTCTTGTGGATGTTCTGGCCAAGTTTCAACTCTGCTCTGCTGAGAAGTCCAATCGAAAGGAAGAATGCCGTGTTCAACACCTACTATGCTGTAGCAGTCAGCGTGGTGACAGCCATCTCAGGGTCATCCTTGGCTCACCCCCAAGGGAAGATCAGCAAGGTGAGCAGGGCGCTGCCCTTGGGCAGCACTTGGGTCTAACAGGACTAGCACACATATTTATGCCCCTCCCCACCCCAGGGCCAGCGTGGGTTGGGAGAGGGCATGCCGGGTGGTGGAGCTGTGCCTGCCTCTACAGTGGAGCTCTAGGTAGAATGCTGGGTGGTCACAGTGGGCCTGGGACTCAGGAGACTGTCCAGTGATCAAAGGCTTTCTGGGGGTAGTGATTAAATCCATCCATGCTAACATGAAACAGACCTCAGTTTGAACCCCATTTCTGCTAGTTGCTAAAGTCAGTCACCATGAGCGAGAGTCAGCAGCAACAGACTAGACTAGAATTAGCCAGCCTCTCTCTTCCCCCCAACAAATTTCAAGAATGGAACCATCAGAATCAGAAGTAGAGAAGTATGTGACACTAGCCATGTGGCTCTGGTCAAGCCACTTCAACGTTTTGAGTCTCAGTGGCCTCATCTGTAAAGTGGGAATTAAGAGATGGTGCATGTAAAGTGCTTAACGGGGAGTAAATGGTAGGCAAACATTAGCTGCTGCTATTAGTAAAGAGAGACGATGGTGTGTGTGAGTCTTGTGGGCAGAGATGGGTGAGAGGGGAGACAAAACAAGTTCTCATGATGATGGGGGAAGGGGCTCCAGCTGGTGGTGTCGGAGGGAAGTCTGGACAGACCAGTGGTGGGGCTCGGGTGGGAGGCACTGGGGGGGCTGGAGTGGAAAGAATGTGGCCACAGATGACAGCTTCACAGCAGAATTCAGTGCTAAGAGGAAGTGAGTGGCCATGAGTTCCATGGTGACAGAAAGTCTAAGACACCCAGCAAGGCAGGAGTGGGTGTCAACTCAGGGAAGCCCAGAGGCTAATCCTAGGTGAGAGCTGAGGGTGTCAGATAAGAGCAAGGCAAGGCTCCGGTTCTGGAGCAGTGAAGGACATAGCAGAGCTATGACCCAGGAACAAGGCCCAGCTTATTGAAACTGGGCCCAGTCACACAGGGTGGCACAGGCACCAAGTAGCCAATAATAATAATAAAAACAATAACAATGATTTGTGTCTACTGGGCATTTATTCATGTTCTATGCCAGACACTGGGCTAAGAGCTTTATATGTGGAAACTCATTTAATCCTTACAATAACCTTATGAAGAAGGTACATCCAAAACCCCATTCTTCTAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAATATTTTGGGAGGCTGAGGCAAGAGGATTGGTTGAGGCCAGGAGTTCAAGACCAGCCCAGGCAACATAGCAAGACCCTGTCTCTAAAAAATAAAACAAAAACCCATTCTTCCCGCTGCCCAGGGACACACCACTAATGAGTGTGATGGGTGCCTAGGATGCTGAGCACCTGGACTTCCCAGCTCATTCCCTAAATGCTGCACAATCAGGGTAACTGTGCCCTGAGCCTAAGAGGCAGTAGTGAGCTGGCCCATCATGTCCACTGATGAAGGACACGTAGCCCCAACACAGGGGAGAAGTGGTTTCAGGATCAGCAAAGCAGGGAGGATGTTACAGGGTTGCCTTGTTCCCAGCGTGCTGGTCACTTGCAGCAAGATGGTGTTCTCTCTCTACCTTGCTTCCTTTACCCACACGCTATTTCTTTGCAGACTTATGTGCACAGTGCGGTGTTGGCAGGAGGCGTGGCTGTGGGTACCTCGTGTCACCTGATCCCTTCTCCGTGGCTTGCCATGGTGCTGGGTCTTGTGGCTGGGCTGATCTCCGTCGGGGGAGCCAAGTACCTGCCGGTAAGAAACTAGACAACTAACCTCCTCTGCTTTGGCTGAAGGCCAGCAGGACGCTGGGACCTGATGGGCCACTGTGCAGTGCACAGCTGCATTAGGCAGGTGTCGGCGCATTCTCTTATTGGCTTCAACGCCTAGTGAGGGATCCATCCTGGCTCGGTGGCGCATTTGTTAAGATGCTCGGGAGCAGGTGGCAGAACCCATTTGAGCTTGCTTGGGCATTGGGGAGAATTTGTTATCAGGCTACTGGGGTGTCACAGAACTCAAGGACAGGGACTGGAGTGTTGTGGGGAGCCCCGAAGCCCCTGTTTTACTTCTTTCTTTGCTTTTCCTGAATATCTGCTTTATTCTTACTCTATAGACATGCTTCCTCCTCTTTCACCCCACATTGTGGGGTGTAGTCTTTTGCTTCAAGAAAGCAGCCTGGTGGATGGAATCTCTTGGCCCCAATCCCAAATTCTCTGGAGAAGGGGCTCTTTGGTTTAACTTGGATAATGTTGTCTTCAGCTGGGGGTGGGCACATCGTGCATATGTGGCTGCTGCCGGGGAACCACGTGGATGATGTGAGAGGAGCAGCACCCAGAAGAGGGAGTGCTGGGCTGATGGTCCAGGTCGTGTCCACTTCTGATTGTTTAATTCTTCTTCTAAGTGGATGGATCTTTCTCCAATACTCAGCAAATCCTGATCGTTCCAGAATACTTCATTATAGCCAATTGGTTATAATGTGCTTCTCTAAGAGAAATATTTAGGGACAACAAATCTTCATGGGTTTGAAGACTTGATGGAGGAAAAAGGAGTAGATTTTCGAAGGCTGGATTTGGATGAACAGGGGCTATTCAGGGAGTGCATTCCAACCTAAAATTAGGAAAAACTGGCTGGGCGCAGTGGCTCACGCGCTTTGGGAGGCCGAGGCGGGCAGATGGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTCATCTTAGCGACTCAGGAGGCTGAGACACGAGAATCACTTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAAATCGTGCCATGGCACTCCAGCCTGGGCGACAGAACAAGACTCTGTCTTAAAAAAAAAAAAAGTGGTTTATATACAGAGTGGAATATTATTTAGCCATAAAAAGAATGAAATCCTGTCATTTGCAGCAACATGGATGGAACTGGAGGTAATTAAAAAATAAAATTAAATAAGGAAAAACGTATCAATACTTCGATTAACCAAAACCAGGGCAAATCTGATTTTCATCTTTGCAAGGGGAACAAATTTCTTTTATCTCCTCTGGCTTTGAAACCCTGAAATGAAAGGAGGAAGGGCAGAAAAAAGAACACATAGCAAGTTATCATCAGTCTCAGCGCCCATCGCATTCCCTGAGCTTGTTTCCTTGACTTCATCACTGGCAGGACTATTCAAAAATGATTCGCTCATTCATTCATATATTCATTCATTCATCATTCCTTCATTCAACACATACGTTTTAACACTCATCTTGCTTTTCAAGCTATAGTTTAGTGAGCGAAATGGATACACACAATACAGTGTGAGAACAGCAAGAGGGCACATCTGAGCTAGCCTGGGATGGGTCTGGAAATGCTTCCTGGAGCAGAGGAAACGGTTGACAGCCAAGTGTTGACAGAGAAGTAGTATTAGCCAGGCAGAGACATGGGGAATGTATTCCAGGCAGAAGGCACAGTGTGTATGAAAGCTTATTGTTAAGAAGAGTGTGTGGCCCAACCAGGAAACAGACATTCTAAAGGCATAGGGTCCACCCAGGAGCATGGTGGACCCAGATCCCTGAAAGATGGGAGGTGCTCAGGCACACTTCCTGGGCTAGTTGAGGAGTCTGGATA
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AGGTTCAGGAGGCCTGGGGTATGCAGATTTCAACCCTCTTGGCCTTTGTTTCCTTGTCTGTAAAATGTGGTTAGCTGGTATCAGCTTGAGAGCTCGGAGGGGAGACGTGACTTCCCCATCTAACTCTAAGTGACAAGGCTGAGACTCTCCAGCCCTAGGATTCTCATCCAAAACCCCTCGAGGCTCAGACCTTTGGAGCAGGAGTGTGATTCTGGCCAACCACCCTCTCTGGCCCCCAGGCGCCCTCTTCTTGTGGATGTTCTGGCCAAGTTTCAACTCTGCTCTGCTGAGAAGTCCAATCGAAAGGAAGAATGCCGTGTTCAACACCTACTATGCTGTAGCAGTCAGCGTGGTGACAGCCATCTCAGGGTCATCCTTGGCTCACCCCCAAGGGAAGATCAGCAAGGTGAGCAGGGCGCTGCCCTTGGGCAGCACTTGGGTCTAACAGGACTAGCACACATATTTATGCCCCTCCCCACCCCAGGGCCAGCGTGGGTTGGGAGAGGGCATGCCGGGTGGTGGAGCTGTGCCTGCCTCTACAGTGGAGCTCTAGGTAGAATGCTGGGTGGTCACAGTGGGCCTGGGACTCAGGAGACTGTCCAGTGATCAAAGGCTTTCTGGGGGTAGTGATTAAATCCATCCATGCTAACATGAAACAGACCTCAGTTTGAACCCCATTTCTGCTAGTTGCTAAAGTCAGTCACCATGAGCGAGAGTCAGCAGCAACAGACTAGACTAGAATTAGCCAGCCTCTCTCTTCCCCCCAACAAATTTCAAGAATGGAACCATCAGAATCAGAAGTAGAGAAGTATGTGACACTAGCCATGTGGCTCTGGTCAAGCCACTTCAACGTTTTGAGTCTCAGTGGCCTCATCTGTAAAGTGGGAATTAAGAGATGGTGCATGTAAAGTGCTTAACGGGGAGTAAATGGTAGGCAAACATTAGCTGCTGCTATTAGTAAAGAGAGACGATGGTGTGTGTGAGTCTTGTGGGCAGAGATGGGTGAGAGGGGAGACAAAACAAGTTCTCATGATGATGGGGGAAGGGGCTCCAGCTGGTGGTGTCGGAGGGAAGTCTGGACAGACCAGTGGTGGGGCTCGGGTGGGAGGCACTGGGGGGGCTGGAGTGGAAAGAATGTGGCCACAGATGACAGCTTCACAGCAGAATTCAGTGCTAAGAGGAAGTGAGTGGCCATGAGTTCCATGGTGACAGAAAGTCTAAGACACCCAGCAAGGCAGGAGTGGGTGTCAACTCAGGGAAGCCCAGAGGCTAATCCTAGGTGAGAGCTGAGGGTGTCAGATAAGAGCAAGGCAAGGCTCCGGTTCTGGAGCAGTGAAGGACATAGCAGAGCTATGACCCAGGAACAAGGCCCAGCTTATTGAAACTGGGCCCAGTCACACAGGGTGGCACAGGCACCAAGTAGCCAATAATAATAATAAAAACAATAACAATGATTTGTGTCTACTGGGCATTTATTCATGTTCTATGCCAGACACTGGGCTAAGAGCTTTATATGTGGAAACTCATTTAATCCTTACAATAACCTTATGAAGAAGGTACATCCAAAACCCCATTCTTCTAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAATATTTTGGGAGGCTGAGGCAAGAGGATTGGTTGAGGCCAGGAGTTCAAGACCAGCCCAGGCAACATAGCAAGACCCTGTCTCTAAAAAATAAAACAAAAACCCATTCTTCCCGCTGCCCAGGGACACACCACTAATGAGTGTGATGGGTGCCTAGGATGCTGAGCACCTGGACTTCCCAGCTCATTCCCTAAATGCTGCACAATCAGGGTAACTGTGCCCTGAGCCTAAGAGGCAGTAGTGAGCTGGCCCATCATGTCCACTGATGAAGGACACGTAGCCCCAACACAGGGGAGAAGTGGTTTCAGGATCAGCAAAGCAGGGAGGATGTTACAGGGTTGCCTTGTTCCCAGCGTGCTGGTCACTTGCAGCAAGATGGTGTTCTCTCTCTACCTTGCTTCCTTTACCCACACGCTATTTCTTTGCAGACTTATGGGCACAGTGCGGTGTTGGCAGGAGGCGTGGCTGTGGGTACCTCGTGTCACCTGATCCCTTCTCCGTGGCTTGCCATGGTGCTGGGTCTTGTGGCTGGGCTGATCTCCGTCGGGGGAGCCAAGTACCTGCCGGTAAGAAACTAGACAACTAACCTCCTCTGCTTTGGCTGAAGGCCAGCAGGACGCTGGGACCTGATGGGCCACTGTGCAGTGCACAGCTGCATTAGGCAGGTGTCGGCGCATTCTCTTATTGGCTTCAACGCCTAGTGAGGGATCCATCCTGGCTCGGTGGCGCATTTGTTAAGATGCTCGGGAGCAGGTGGCAGAACCCATTTGAGCTTGCTTGGGCATTGGGGAGAATTTGTTATCAGGCTACTGGGGTGTCACAGAACTCAAGGACAGGGACTGGAGTGTTGTGGGGAGCCCCGAAGCCCCTGTTTTACTTCTTTCTTTGCTTTTCCTGAATATCTGCTTTATTCTTACTCTATAGACATGCTTCCTCCTCTTTCACCCCACATTGTGGGGTGTAGTCTTTTGCTTCAAGAAAGCAGCCTGGTGGATGGAATCTCTTGGCCCCAATCCCAAATTCTCTGGAGAAGGGGCTCTTTGGTTTAACTTGGATAATGTTGTCTTCAGCTGGGGGTGGGCACATCGTGCATATGTGGCTGCTGCCGGGGAACCACGTGGATGATGTGAGAGGAGCAGCACCCAGAAGAGGGAGTGCTGGGCTGATGGTCCAGGTCGTGTCCACTTCTGATTGTTTAATTCTTCTTCTAAGTGGATGGATCTTTCTCCAATACTCAGCAAATCCTGATCGTTCCAGAATACTTCATTATAGCCAATTGGTTATAATGTGCTTCTCTAAGAGAAATATTTAGGGACAACAAATCTTCATGGGTTTGAAGACTTGATGGAGGAAAAAGGAGTAGATTTTCGAAGGCTGGATTTGGATGAACAGGGGCTATTCAGGGAGTGCATTCCAACCTAAAATTAGGAAAAACTGGCTGGGCGCAGTGGCTCACGCGCTTTGGGAGGCCGAGGCGGGCAGATGGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTCATCTTAGCGACTCAGGAGGCTGAGACACGAGAATCACTTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAAATCGTGCCATGGCACTCCAGCCTGGGCGACAGAACAAGACTCTGTCTTAAAAAAAAAAAAAGTGGTTTATATACAGAGTGGAATATTATTTAGCCATAAAAAGAATGAAATCCTGTCATTTGCAGCAACATGGATGGAACTGGAGGTAATTAAAAAATAAAATTAAATAAGGAAAAACGTATCAATACTTCGATTAACCAAAACCAGGGCAAATCTGATTTTCATCTTTGCAAGGGGAACAAATTTCTTTTATCTCCTCTGGCTTTGAAACCCTGAAATGAAAGGAGGAAGGGCAGAAAAAAGAACACATAGCAAGTTATCATCAGTCTCAGCGCCCATCGCATTCCCTGAGCTTGTTTCCTTGACTTCATCACTGGCAGGACTATTCAAAAATGATTCGCTCATTCATTCATATATTCATTCATTCATCATTCCTTCATTCAACACATACGTTTTAACACTCATCTTGCTTTTCAAGCTATAGTTTAGTGAGCGAAATGGATACACACAATACAGTGTGAGAACAGCAAGAGGGCACATCTGAGCTAGCCTGGGATGGGTCTGGAAATGCTTCCTGGAGCAGAGGAAACGGTTGACAGCCAAGTGTTGACAGAGAAGTAGTATTAGCCAGGCAGAGACATGGGGAATGTATTCCAGGCAGAAGGCACAGTGTGTATGAAAGCTTATTGTTAAGAAGAGTGTGTGGCCCAACCAGGAAACAGACATTCTAAAGGCATAGGGTCCACCCAGGAGCATGGTGGACCCAGATCCCTGAAAGATGGGAGGTGCTCAGGCACACTTCCTGGGCTAGTTGAGGAGTCTGGATA
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Task1_train_599
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The following genetic variant occurs in LDLRAP1 (low density lipoprotein receptor adaptor protein 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hypercholesterolemia, familial, 4
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TTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGGACATGCCACTGAGAAGGCTGTGGCTGAGGAGAGGCCTGGGCAGGTCAGGGTTCCGAGCCCTGGGTCCCCGTCTGTCAGGCCTCCCTTTCTCACTTGAGACCCTCAGCAGCCTCCTACAGCCCTCCCACATCAGGGGCTTTGTTTGGGGTTGGAGTCAGCGATTTTTGGTCCAGCGGGTGGGGACAGAGTCAGGGTCTTTGCCCTCCTGCCTCCTCCTTCCTCTTCCTTGCCTCCTTCTTGCCAGGGACTAGTGGAAACCCCTTGGTCCAGCCTGGGGCGAGGGCGACAGTGACACCTTCCCTGCCTCACTGGCTGACGACACCTGCCCTCTGAAGAAAATCTTTTGTTTGCTTTCTCCACATTATTTTGAGCATCATGTGCCCTTTATTAACAATTTTGAAAATCAGCAAAGCATTAAACAGAAAGTAACACCATCCTGTAATCCCACAGCCCAGAGTTTTGGGCTTAATTCATGCTAATCCTATACATATACATTATTTTGCATTGATCAGCTCATCGTATTTGCATTTTGGGATCCTGATTTTTCACTTAACAGCGATGTGTCAGAAGCATTGCTCCAGGCTGTTAAAAGCTCCTCGTAAACACCTCTTCCATTGACTGCCTAACATTCTCTTAAGGGAAGCTGCTATAATTTACTTGACTCTCCCCTATTCTTTTGGACATGTAGGTTGTCTCCCTTTGTAAATTTATTTTTCGAACAGCACGGTGTTGACACAGTTATAGCCAAAGAATCTTCCGTGTTCCCTCCCACAGCTTGTTCCCCACCCCACCCCCACCCCCGCTGCTCCCTTTACCAGCCCCTTCTCCTCTTTCCTGGGCATGTCCTGACTGAGCTGGGGCACAGAGTGGGTGCTCTGGCCTCTCCCGGGGGTGGGTGCACCGCTGGCTGCCCCTGACTTTTCTGAGCTGTTTGACTCTCAAGGGGAGGTGCTTTGATCTGAGGTTACTCCACCTCCCCTGCACCGGGGGCTTCCTTCTTGGGCCATGTGCCCTGCTGTTCCCCACTGGTGCCCCCTCGCGTCTGACCCTGGGGCGCGCCAGCCCTCACCCAGGCTCTCGGCTCACACAGCTCTGCCTTCCAGGCTTGCCCAGTCTCGGACAAACCCTCAGGTCCTGGACACTGGCCTGACAGCCCAGGACATGCATTACGCCCAGTGCCTCTCGCCTGTCGACTGGGACAAGCCTGACAGCAGCGGCACAGAGCAGGATGACCTCTTCAGCTTCTGAGGGCCCGGGGCCAGCCGGACACAAGCGGCCCTGACACGTGATGGACCAAAGCCACCTGCTGCGGGGGAGCCAGTTCTGGGGCCCGCCTGCCACCTCTCCCAGCCCTCAGCATTGTCAGCCTGAAGATCAGAGCTGCAGCCAGTCAGGCAGGGGAGAGATTTTTCTTTTAAGCCCTGCTCTTTCTCTGAGAACCAAAAGATGCCTTGAATATTTATTCAGTGACTTCTGGCTTATGCTCAGAAGCCAGTCTGCGTCAGGCACGTCTCCTGCTGCGTGACATGTGCAGTGCTGTAATCGGCTCCCGCTTGCTCTCCTGGAGCAAGCTCTGCCCTGGCTGTGGGTATCAGGACTGTGACCAAAGCATTTCTAGTCCCTTCTCTCTTTCTAAGGACCCAAATTTCCCTGGGGGCATCCTGCTTCCTGAAAGCTGTTGGATTTCAGTGATTTTTCCCCCCACCCCCCAGCACAGGAGAGCACCCACAGCCGCAGAAGGGGAATGTGTCCTCCTGCTCTGCTTCCTCAGGGCCCAGCAGGCGGGGGTTTGAGCCCTGGACCCCAGGCTCTTAGAGACTAAGGGGCAGCTCCTGACCAAAGACGATACAGCTTGGCACTTTAAAGCATTAACAGCAGGTGTGACCCTGAGGGCTCCTCCATGGTGCTGCATTGAGTCCAGCTTTCCTTCTGCCCTTCCTCCAGGAGAAGGGGCCCAAGGTCCCCGTGGATGGTCTCCACCTGTGCTTGGAACCAGTGTAACTGGCTGCTCCCTGCTCCCAGGGACTGACACGGGGATCATCTCTGTGACCGCCCTCCGTCGGGCCCCTGCCTGCCTTCTCCCCTCCACGCAAGGCTGTGCTCTTCCTCTGGTTTCTGTGTGTCCGTTTGAGTGTCTGCGCCCCGCCTCCCCATACTTCCTGGGATGATGTGTGAAACCTGACACCTAGATTTATTTGGAAATATTCTATGACCACTTTACAGATGAGGAAACAGGCCTCAAGCGTGGAGGGGTAGAGTGAAGAGTAGAACCCAGGTCTGATGCCAAAGCTGCTTTCTTCTCTGCCTCCTCCTCACGCAACTCACACCTCCTTTTCTTCTAGCTTTGTTGTCCTCCCAGGAACCAAAAAACCCCAGCTATTTTCTGACCAAAATGTGTTTCATAACAAACCATCTGGTGCCTTTCCACACAGAACTGGCAGGAGCCTCGTGTCCTGCTAGCTGTCTCTCTTGTTGATTTCCGTGAAAATGCAAGTGTTTGAAGTCTGCTCATTCCGAGGGTGAAACAAAATCCAACCCTGTCAGAATCATGCTGTTCTCTTTGCTGACACTGTGACCCTGGGTCGGGACAGACCAGCAGCAATCTGTCTTTAGAATCGCTTTCCTTCCTCCCCTTTTGCCCCCGTGGGGCTCCCGGCATCCTGAAAGCCAGCAAAGCCTCCAGCATCTTTTCCATCCTGAGGTGCCTCCCAGTGGCCTGGCTTGTCGGAGCAAGTTTCATCAGCCCTAGGGAAAACACGGCCCTCCTGGGAACCTCCTTACCTGGAGTAACCGGACACCTTAGACGGAGGTGCCTGAGGGTGGGGTGGGATTTGCAGGGTCATTATCAGAACATGAGGATAACTTCCTTGCCCCTGCTCTGTAGCCACCTCCTTGGCACCGGCCTCTATTTGTCATAAGGCGGCGTGGGCGAGGCCTGACACAGGCCAGCCTTGGCACGAGGGGGGCCAGGGGTTCTGAGAAGCGCTGCCCTGTGAGAGCCACGCTGGCCTTCGTCTCCATCTCTGGTTGACGGGCTGTCCGTGTGCCTCCTGTGTGTCTGCAGACAAGTCTTGCTGTGCTTTATTTGTGAAACTTTAATGAGGAAAAAACAAATAATAAATGTTCTCGTTTTGAAACTCAAGCAACGCTCATCAGGTGGAGTAGACTGGCGGCAGCGTCCGGCGGCTCCTGCCCTTTGGGGATGGCAGCAGCAGTGACCACAGGCTGGGT
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TTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGGACATGCCACTGAGAAGGCTGTGGCTGAGGAGAGGCCTGGGCAGGTCAGGGTTCCGAGCCCTGGGTCCCCGTCTGTCAGGCCTCCCTTTCTCACTTGAGACCCTCAGCAGCCTCCTACAGCCCTCCCACATCAGGGGCTTTGTTTGGGGTTGGAGTCAGCGATTTTTGGTCCAGCGGGTGGGGACAGAGTCAGGGTCTTTGCCCTCCTGCCTCCTCCTTCCTCTTCCTTGCCTCCTTCTTGCCAGGGACTAGTGGAAACCCCTTGGTCCAGCCTGGGGCGAGGGCGACAGTGACACCTTCCCTGCCTCACTGGCTGACGACACCTGCCCTCTGAAGAAAATCTTTTGTTTGCTTTCTCCACATTATTTTGAGCATCATGTGCCCTTTATTAACAATTTTGAAAATCAGCAAAGCATTAAACAGAAAGTAACACCATCCTGTAATCCCACAGCCCAGAGTTTTGGGCTTAATTCATGCTAATCCTATACATATACATTATTTTGCATTGATCAGCTCATCGTATTTGCATTTTGGGATCCTGATTTTTCACTTAACAGCGATGTGTCAGAAGCATTGCTCCAGGCTGTTAAAAGCTCCTCGTAAACACCTCTTCCATTGACTGCCTAACATTCTCTTAAGGGAAGCTGCTATAATTTACTTGACTCTCCCCTATTCTTTTGGACATGTAGGTTGTCTCCCTTTGTAAATTTATTTTTCGAACAGCACGGTGTTGACACAGTTATAGCCAAAGAATCTTCCGTGTTCCCTCCCACAGCTTGTTCCCCACCCCACCCCCACCCCCGCTGCTCCCTTTACCAGCCCCTTCTCCTCTTTCCTGGGCATGTCCTGACTGAGCTGGGGCACAGAGTGGGTGCTCTGGCCTCTCCCGGGGGTGGGTGCACCGCTGGCTGCCCCTGACTTTTCTGAGCTGTTTGACTCTCAAGGGGAGGTGCTTTGATCTGAGGTTACTCCACCTCCCCTGCACCGGGGGCTTCCTTCTTGGGCCATGTGCCCTGCTGTTCCCCACTGGTGCCCCCTCGCGTCTGACCCTGGGGCGCGCCAGCCCTCACCCAGGCTCTCGGCTCACACAGCTCTGCCTTCCAGGCTTGCCCAGTCTCGGACAAACCCTCAGGTCCTGGACACTGGCCTGACAGCCCAGGACATGCATTACGCCCAGTGCCTCTTGCCTGTCGACTGGGACAAGCCTGACAGCAGCGGCACAGAGCAGGATGACCTCTTCAGCTTCTGAGGGCCCGGGGCCAGCCGGACACAAGCGGCCCTGACACGTGATGGACCAAAGCCACCTGCTGCGGGGGAGCCAGTTCTGGGGCCCGCCTGCCACCTCTCCCAGCCCTCAGCATTGTCAGCCTGAAGATCAGAGCTGCAGCCAGTCAGGCAGGGGAGAGATTTTTCTTTTAAGCCCTGCTCTTTCTCTGAGAACCAAAAGATGCCTTGAATATTTATTCAGTGACTTCTGGCTTATGCTCAGAAGCCAGTCTGCGTCAGGCACGTCTCCTGCTGCGTGACATGTGCAGTGCTGTAATCGGCTCCCGCTTGCTCTCCTGGAGCAAGCTCTGCCCTGGCTGTGGGTATCAGGACTGTGACCAAAGCATTTCTAGTCCCTTCTCTCTTTCTAAGGACCCAAATTTCCCTGGGGGCATCCTGCTTCCTGAAAGCTGTTGGATTTCAGTGATTTTTCCCCCCACCCCCCAGCACAGGAGAGCACCCACAGCCGCAGAAGGGGAATGTGTCCTCCTGCTCTGCTTCCTCAGGGCCCAGCAGGCGGGGGTTTGAGCCCTGGACCCCAGGCTCTTAGAGACTAAGGGGCAGCTCCTGACCAAAGACGATACAGCTTGGCACTTTAAAGCATTAACAGCAGGTGTGACCCTGAGGGCTCCTCCATGGTGCTGCATTGAGTCCAGCTTTCCTTCTGCCCTTCCTCCAGGAGAAGGGGCCCAAGGTCCCCGTGGATGGTCTCCACCTGTGCTTGGAACCAGTGTAACTGGCTGCTCCCTGCTCCCAGGGACTGACACGGGGATCATCTCTGTGACCGCCCTCCGTCGGGCCCCTGCCTGCCTTCTCCCCTCCACGCAAGGCTGTGCTCTTCCTCTGGTTTCTGTGTGTCCGTTTGAGTGTCTGCGCCCCGCCTCCCCATACTTCCTGGGATGATGTGTGAAACCTGACACCTAGATTTATTTGGAAATATTCTATGACCACTTTACAGATGAGGAAACAGGCCTCAAGCGTGGAGGGGTAGAGTGAAGAGTAGAACCCAGGTCTGATGCCAAAGCTGCTTTCTTCTCTGCCTCCTCCTCACGCAACTCACACCTCCTTTTCTTCTAGCTTTGTTGTCCTCCCAGGAACCAAAAAACCCCAGCTATTTTCTGACCAAAATGTGTTTCATAACAAACCATCTGGTGCCTTTCCACACAGAACTGGCAGGAGCCTCGTGTCCTGCTAGCTGTCTCTCTTGTTGATTTCCGTGAAAATGCAAGTGTTTGAAGTCTGCTCATTCCGAGGGTGAAACAAAATCCAACCCTGTCAGAATCATGCTGTTCTCTTTGCTGACACTGTGACCCTGGGTCGGGACAGACCAGCAGCAATCTGTCTTTAGAATCGCTTTCCTTCCTCCCCTTTTGCCCCCGTGGGGCTCCCGGCATCCTGAAAGCCAGCAAAGCCTCCAGCATCTTTTCCATCCTGAGGTGCCTCCCAGTGGCCTGGCTTGTCGGAGCAAGTTTCATCAGCCCTAGGGAAAACACGGCCCTCCTGGGAACCTCCTTACCTGGAGTAACCGGACACCTTAGACGGAGGTGCCTGAGGGTGGGGTGGGATTTGCAGGGTCATTATCAGAACATGAGGATAACTTCCTTGCCCCTGCTCTGTAGCCACCTCCTTGGCACCGGCCTCTATTTGTCATAAGGCGGCGTGGGCGAGGCCTGACACAGGCCAGCCTTGGCACGAGGGGGGCCAGGGGTTCTGAGAAGCGCTGCCCTGTGAGAGCCACGCTGGCCTTCGTCTCCATCTCTGGTTGACGGGCTGTCCGTGTGCCTCCTGTGTGTCTGCAGACAAGTCTTGCTGTGCTTTATTTGTGAAACTTTAATGAGGAAAAAACAAATAATAAATGTTCTCGTTTTGAAACTCAAGCAACGCTCATCAGGTGGAGTAGACTGGCGGCAGCGTCCGGCGGCTCCTGCCCTTTGGGGATGGCAGCAGCAGTGACCACAGGCTGGGT
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Subsets and Splits
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