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_22100
|
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Lymphangiomyomatosis
|
AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG
|
AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG
|
Task1_train_22101
|
With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Tuberous sclerosis 2
|
GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCC
|
GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCACGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCC
|
Task1_train_22102
|
Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Tuberous sclerosis 2
|
CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCT
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CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGCCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCT
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Task1_train_22103
|
A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Tuberous sclerosis 2
|
ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTC
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ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGACTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTC
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Task1_train_22104
|
A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Tuberous sclerosis 2
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GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTCAGCTTCTGATGGTGGCCCTGTAGGGAGCTGTTGTTGGGTTCCCATCCCTCAGGCTCAGCCCCACCCTGTTGGGCCCCTTCAGCCCCTCTGAGAGGCTCACTGGGTCCTCATGGGTCTTGCCTCAAAGCATAGCCAGCCTTGCTGGGCTGCAGGTTCTGAGGCCTTACTGGCCCACAGTGTATCCGAGGGGTGAGGCCGGCTTTGGGAAATGGAAGCTGTTCCCGGGACACTGCCTGGCAGGCCATCTGGCCCCGGGCTCTGCCTGAGCTCCGCTCATCTTCTGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCAC
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GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCGGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTCAGCTTCTGATGGTGGCCCTGTAGGGAGCTGTTGTTGGGTTCCCATCCCTCAGGCTCAGCCCCACCCTGTTGGGCCCCTTCAGCCCCTCTGAGAGGCTCACTGGGTCCTCATGGGTCTTGCCTCAAAGCATAGCCAGCCTTGCTGGGCTGCAGGTTCTGAGGCCTTACTGGCCCACAGTGTATCCGAGGGGTGAGGCCGGCTTTGGGAAATGGAAGCTGTTCCCGGGACACTGCCTGGCAGGCCATCTGGCCCCGGGCTCTGCCTGAGCTCCGCTCATCTTCTGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCAC
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Task1_train_22105
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A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCC
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GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTCCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCC
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Task1_train_22106
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Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Tuberous sclerosis 2
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GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGC
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GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTACCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGC
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Task1_train_22107
|
A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCGGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22108
|
The gene TSC2 (TSC complex subunit 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Tuberous sclerosis 2
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22109
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This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Tuberous sclerosis 2
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22110
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Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Isolated focal cortical dysplasia type II
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22111
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A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Lymphangiomyomatosis
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22112
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A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22113
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Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Tuberous sclerosis syndrome
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
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Task1_train_22114
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This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22115
|
This mutation is located in gene TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Isolated focal cortical dysplasia type II
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22116
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A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Lymphangiomyomatosis
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22117
|
Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Tuberous sclerosis 2
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22118
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A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Tuberous sclerosis syndrome
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22119
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Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; TSC2-related disorder
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22120
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Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Tuberous sclerosis 2
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
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Task1_train_22121
|
This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Tuberous sclerosis 2
|
GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
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GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAAGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
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Task1_train_22122
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An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Tuberous sclerosis 2
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GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
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GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGACGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
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Task1_train_22123
|
A variant found in Chromosome 16 affects TSC2 (TSC complex subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Tuberous sclerosis 2
|
CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAG
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CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCATTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAG
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Task1_train_22124
|
Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Tuberous sclerosis 2
|
TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTC
|
TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGAGAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTC
|
Task1_train_22125
|
A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Tuberous sclerosis 2
|
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
|
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
|
Task1_train_22126
|
A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Lymphangiomyomatosis
|
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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Task1_train_22127
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A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Isolated focal cortical dysplasia type II
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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Task1_train_22128
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Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Tuberous sclerosis 2
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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Task1_train_22129
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This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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Task1_train_22130
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Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Tuberous sclerosis syndrome
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
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Task1_train_22131
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The gene TSC2 (TSC complex subunit 2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Tuberous sclerosis 2
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CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAG
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CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGACCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAG
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Task1_train_22132
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A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
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TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCGCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
|
Task1_train_22133
|
With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Tuberous sclerosis 2
|
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
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TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCGCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
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Task1_train_22134
|
Here is a mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Tuberous sclerosis 2
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TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
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TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCTCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
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Task1_train_22135
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This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Tuberous sclerosis 2
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AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCA
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AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCATGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCA
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Task1_train_22136
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This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Tuberous sclerosis 2
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GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGA
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GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGCTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGA
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Task1_train_22137
|
The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Tuberous sclerosis 2
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TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAG
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TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCCGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAG
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Task1_train_22138
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Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Tuberous sclerosis 2
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GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCA
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GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCTACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCA
|
Task1_train_22139
|
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Tuberous sclerosis 2
|
TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCC
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TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCTACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCC
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Task1_train_22140
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Given this context: Chromosome 16, gene TSC2 (TSC complex subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
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CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGACAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
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Task1_train_22141
|
This variant lies on Chromosome 16 and affects the gene TSC2 (TSC complex subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Tuberous sclerosis 2
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CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
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CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGACAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
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Task1_train_22142
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Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
|
GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATA
|
GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCCACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATA
|
Task1_train_22143
|
This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Tuberous sclerosis 2
|
ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAG
|
ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACTACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAG
|
Task1_train_22144
|
This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Hereditary cancer-predisposing syndrome
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GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
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GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAGTGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
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Task1_train_22145
|
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Tuberous sclerosis 2
|
GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
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GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAGTGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
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Task1_train_22146
|
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Tuberous sclerosis 2
|
AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACAC
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AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACCCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACAC
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Task1_train_22147
|
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Tuberous sclerosis 2
|
GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACA
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GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGTACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACA
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Task1_train_22148
|
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
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AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCT
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AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGGCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCT
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Task1_train_22149
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Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Tuberous sclerosis 2
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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Task1_train_22150
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This mutation occurs in TSC2 (TSC complex subunit 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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Task1_train_22151
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This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Tuberous sclerosis 2
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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Task1_train_22152
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The variant affects gene TSC2 (TSC complex subunit 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Isolated focal cortical dysplasia type II
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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Task1_train_22153
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Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Lymphangiomyomatosis
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
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Task1_train_22154
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A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
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GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAAACTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
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Task1_train_22155
|
This variant affects the gene TSC2 (TSC complex subunit 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
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GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAAGCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
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Task1_train_22156
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The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Tuberous sclerosis 2
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TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGG
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TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGGGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGG
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Task1_train_22157
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A variant affecting Chromosome 16, within the gene TSC2 (TSC complex subunit 2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Tuberous sclerosis 2
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GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACG
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GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAATGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACG
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Task1_train_22158
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Given a variant located on Chromosome 16 and affecting TSC2 (TSC complex subunit 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
|
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCGCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
|
Task1_train_22159
|
A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Tuberous sclerosis 2
|
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
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TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCTCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
|
Task1_train_22160
|
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Lymphangiomyomatosis
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22161
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A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Tuberous sclerosis 2
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22162
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A variant was discovered on Chromosome 16, affecting TSC2 (TSC complex subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Isolated focal cortical dysplasia type II
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22163
|
This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Hereditary cancer-predisposing syndrome
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22164
|
The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Tuberous sclerosis 2
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22165
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A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; TSC2-related disorder
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
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Task1_train_22166
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Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Polycystic kidney disease, adult type
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CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAG
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CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCGGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAG
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Task1_train_22167
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This variant lies on Chromosome 16 and affects the gene PKD1-AS1, PKD1 (PKD1 antisense RNA 1| polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Polycystic kidney disease, adult type
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CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGC
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CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCACACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGC
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Task1_train_22168
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This alteration in PKD1, PKD1-AS1 (polycystin 1, transient receptor potential channel interacting| PKD1 antisense RNA 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Polycystic kidney disease, adult type
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AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGCAAACTATGATTGGGTCTCAACCATCCAACAAGCATCTCTACAATCTAGAGACGCCAGTGTGTCTGTCCCATGCAGGTTTATGGCCTAAAATTAACTTCTGGACAAGGAAACATATGAATGCCTTTCAAATCCCAACAGTGTGTAGGGCTCCCTGAGGCCAGAGATCTGCTTGTGTCTCCAGGAGCCAGTGACCACCGAGGCTGTGCCACTGCATCGGGCCACCATGCTGATATGCCCGGTCCCAGAGCTGCTAGAGAAGAGGTACAGAGGCAGCGAAGACACGTTGAGGGGGAGGACGAGACCAACTGCGAGACGCCGAGTCCCGGGCTCTCAGGACGCTCTCCCGTACCTGCGCCCTCGTCAGCCCATCACCGAAAGAACGGCCTGACCCAGGGTCACACTGCACTGAATGCTTCCTGTTTTGCTGTCTCTCGGAGGATAAAAGACACTCTTGGCTGGGCG
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AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACTGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGCAAACTATGATTGGGTCTCAACCATCCAACAAGCATCTCTACAATCTAGAGACGCCAGTGTGTCTGTCCCATGCAGGTTTATGGCCTAAAATTAACTTCTGGACAAGGAAACATATGAATGCCTTTCAAATCCCAACAGTGTGTAGGGCTCCCTGAGGCCAGAGATCTGCTTGTGTCTCCAGGAGCCAGTGACCACCGAGGCTGTGCCACTGCATCGGGCCACCATGCTGATATGCCCGGTCCCAGAGCTGCTAGAGAAGAGGTACAGAGGCAGCGAAGACACGTTGAGGGGGAGGACGAGACCAACTGCGAGACGCCGAGTCCCGGGCTCTCAGGACGCTCTCCCGTACCTGCGCCCTCGTCAGCCCATCACCGAAAGAACGGCCTGACCCAGGGTCACACTGCACTGAATGCTTCCTGTTTTGCTGTCTCTCGGAGGATAAAAGACACTCTTGGCTGGGCG
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Task1_train_22169
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The gene PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Polycystic kidney disease, adult type
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CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGGGCTCCGAGTGTAGGTAGACTGCCAGGTAGGGCTCAGGTTCCTCAGACAGGTAGTGGCCTGGGGCAGAACGCGCAGGTCACACGCCTGCCGGGAAGCTCAACCACCCGGGGGACACCCACGATGGCCCTCCTGAGCCCACCCTCTGCCACGGGCCTGAAAGGCCATAGGAGCCTCTGCACCAGAGCTGGCACCTGCTTCTCCGTGGCCCCCAGCTCCTCTCTGGCCAGGCCCCCAGCAGCCCATGAAACAGAAAGCAAATTTCACCAGAGACACCCATGGAAGCCCTACGAGAAACGCCTTCCCCCCAAGAACAAGGCCAGGGGGCCGCGTGTGCCCCACCCGCTGCACGCACCGTCCAGCAGCGTATAGTTGAGCTGCAGATGCAGCCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGCTGAAAGCCTCGGGGATGGAGAAGTGGCAGCCAGGCCCTGGGGCGCCGCCATAGCACAGCAGGCTCCGCGGGTCCGAGCGCTTGCCCTGGGCCACGATCTCCTCGCCCGCCAGCGTCAGGGGCTCCTCGTTGAGCACGCGGGAGCGCATGAGGATGCGCATGAGGGCAGAGGTCAGGTTGTAGGCCTGGGACGCCACCATCCGAGATGGTGACTCGGCTCCCAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGCCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAAAAAGGGGAGGGGAGGAGGGGAAGGGCTGGGGGGGAAGAAGGGAAAGGGCTAGGGGAGGGGAGGAGGGGAAGGGCTAGGGGAGGGGAGGAGGGGAGGGGCTAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGAGTGGAGGGCACAGAGCAGCATCTTCTTAGTCCCTCCCCACATCTGGGCCCCTCTTTACACCCTGGGTCCCCCGAGAGGCACCCTGCGTTCACACAGGACAGAACGGCTGAGGCTACTGAAGCAGGTCAGAGACCGAGGAACGCCATGGCAGGAAGGAGCCCAGGCTGGAGGCTCAGCTCCTCGGCCAAGCTGCCCGTCTGCCCTGGGGGGCTGAACCCAGTGCCCTGGCAGGCATGCGGGGCAGGGTGAGCAGGTGGGGCCATCCTACCATGCACTGGGCCAGCGCAGCAGCGATCTGCTGGATGTCATCCACAGTGTGGACCCTCAGGGACACCAGAGTCTCCGTGATGTTCTTGCGTATCTGGGCTCGGTGCTGCCGCTCGTGCTTGGGCTCTGCCGCCACGTCCAGGGCCCGCTCGTACTGGGGCAGGCAGGGGGCACAGCAAGCTGTCAGCAGCGCAGGAGGCCGGCAGGAGGCCAGCAGATGCCCACGACTCCCGGGGTGCAGTTACGTGCTAGACGCTGTGTGATGCGGGCACTGACCCACAACACTGAGCTGTTTCTTCATGGGCAAAACAGGGTAAGCACATGGGCCCTCCTGGGCGGGGGCTGCATTGTGGAAAGCAGACGCCGGAGAGGGCCCGGTGGGTGTGGCTGCTGGGAGCGGAAGGTCGGGGTGCTGCTTCAGGGTCACTGGGATTTATCTCTGGGGCCCGGGATGAGCCCTCTGCAAAGCTCCAGGCAGGGGTACAGGTCTTGGTCCCAAGCACGCATGCAGCAGATGTGACGTCCCCTCCCAGGCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACAGAACTCCTCGCAGTGGCCCTGGCGACAGCGCCGCAGCAGCAGGGCGTACACCAGCGGGGCGCCAGCATCCTCCGCGTCATGCCAGCCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGC
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CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGGGCTCCGAGTGTAGGTAGACTGCCAGGTAGGGCTCAGGTTCCTCAGACAGGTAGTGGCCTGGGGCAGAACGCGCAGGTCACACGCCTGCCGGGAAGCTCAACCACCCGGGGGACACCCACGATGGCCCTCCTGAGCCCACCCTCTGCCACGGGCCTGAAAGGCCATAGGAGCCTCTGCACCAGAGCTGGCACCTGCTTCTCCGTGGCCCCCAGCTCCTCTCTGGCCAGGCCCCCAGCAGCCCATGAAACAGAAAGCAAATTTCACCAGAGACACCCATGGAAGCCCTACGAGAAACGCCTTCCCCCCAAGAACAAGGCCAGGGGGCCGCGTGTGCCCCACCCGCTGCACGCACCGTCCAGCAGCGTATAGTTGAGCTGCAGATGCAGCCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGCTGAAAGCCTCGGGGATGGAGAAGTGGCAGCCAGGCCCTGGGGCGCCGCCATAGCACAGCAGGCTCCGCGGGTCCGAGCGCTTGCCCTGGGCCACGATCTCCTCGCCCGCCAGCGTCAGGGGCTCCTCGTTGAGCACGCGGGAGCGCATGAGGATGCGCATGAGGGCAGAGGTCAGGTTGTAGGCCTGGGACGCCACCATCCGAGATGGTGACTCGGCTCCCAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGTCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAAAAAGGGGAGGGGAGGAGGGGAAGGGCTGGGGGGGAAGAAGGGAAAGGGCTAGGGGAGGGGAGGAGGGGAAGGGCTAGGGGAGGGGAGGAGGGGAGGGGCTAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGAGTGGAGGGCACAGAGCAGCATCTTCTTAGTCCCTCCCCACATCTGGGCCCCTCTTTACACCCTGGGTCCCCCGAGAGGCACCCTGCGTTCACACAGGACAGAACGGCTGAGGCTACTGAAGCAGGTCAGAGACCGAGGAACGCCATGGCAGGAAGGAGCCCAGGCTGGAGGCTCAGCTCCTCGGCCAAGCTGCCCGTCTGCCCTGGGGGGCTGAACCCAGTGCCCTGGCAGGCATGCGGGGCAGGGTGAGCAGGTGGGGCCATCCTACCATGCACTGGGCCAGCGCAGCAGCGATCTGCTGGATGTCATCCACAGTGTGGACCCTCAGGGACACCAGAGTCTCCGTGATGTTCTTGCGTATCTGGGCTCGGTGCTGCCGCTCGTGCTTGGGCTCTGCCGCCACGTCCAGGGCCCGCTCGTACTGGGGCAGGCAGGGGGCACAGCAAGCTGTCAGCAGCGCAGGAGGCCGGCAGGAGGCCAGCAGATGCCCACGACTCCCGGGGTGCAGTTACGTGCTAGACGCTGTGTGATGCGGGCACTGACCCACAACACTGAGCTGTTTCTTCATGGGCAAAACAGGGTAAGCACATGGGCCCTCCTGGGCGGGGGCTGCATTGTGGAAAGCAGACGCCGGAGAGGGCCCGGTGGGTGTGGCTGCTGGGAGCGGAAGGTCGGGGTGCTGCTTCAGGGTCACTGGGATTTATCTCTGGGGCCCGGGATGAGCCCTCTGCAAAGCTCCAGGCAGGGGTACAGGTCTTGGTCCCAAGCACGCATGCAGCAGATGTGACGTCCCCTCCCAGGCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACAGAACTCCTCGCAGTGGCCCTGGCGACAGCGCCGCAGCAGCAGGGCGTACACCAGCGGGGCGCCAGCATCCTCCGCGTCATGCCAGCCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGC
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Task1_train_22170
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Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal dominant polycystic kidney disease
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CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTG
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CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCGCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTG
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Task1_train_22171
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This variant lies on Chromosome 16 and affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Polycystic kidney disease, adult type
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CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCG
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CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCGCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCG
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Task1_train_22172
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Here is a variant affecting PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Inborn genetic diseases
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CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCGAGGACGGCACCGCCTCCAAGTGCAGCTGCACTCGGGGCAGCAGAGCAGCAAGAGCCAGGCCCGGGGAGGGCGGGGGGCGCAGTTCAGGGGCCCAGCTTCCCTGTCCACTCCCCCCACGCCTGGCCCCTCCCTCACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGC
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CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGAGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCGAGGACGGCACCGCCTCCAAGTGCAGCTGCACTCGGGGCAGCAGAGCAGCAAGAGCCAGGCCCGGGGAGGGCGGGGGGCGCAGTTCAGGGGCCCAGCTTCCCTGTCCACTCCCCCCACGCCTGGCCCCTCCCTCACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGC
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Task1_train_22173
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Here’s a variant in PKD1 (polycystin 1, transient receptor potential channel interacting) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Polycystic kidney disease, adult type
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GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGAC
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GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCATCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGAC
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Task1_train_22174
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The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Polycystic liver disease 1
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ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
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ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCAGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
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Task1_train_22175
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This gene mutation involves PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Polycystic kidney disease
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ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
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ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCAGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
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Task1_train_22176
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This mutation occurs in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; PKD1-related disorder
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GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCC
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GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGCAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCC
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Task1_train_22177
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A variant has been detected on Chromosome 16 in PKD1 (polycystin 1, transient receptor potential channel interacting). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Polycystic kidney disease, adult type
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GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCCCCCCACTGGCAACCAGGCCCTGGAGCCACCCTGACAGCACCGCCTCCCCTGCCCCAACCAAGCCGGCACTGGGGGGCTCCAAGCAGGCAGTGAACTGCCCCCAGGATCTGGTCTCAAGCCTGGAAGGGGACACGGACCAACTGGGAGGGCAGAAGGGATATTGGGGGCCTGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCACTTAAATTAAATAAATTAGCAAATATTCCTTCTTCTAACGTAGAAATCTTGTTGTTGCTTATATCCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAAGAGGCGGTGCCGCCAGCCCACCCGGAGTGAGCCCCGCATGCTGGCACGACTGGGGGACACTCACAGCTCTGCCAGCGCCGAGAGGTTCGCCAGGAGCCCAACGTCCAGCGCCCGGAGCAGGTTGTGGGAGACGTCTCTGAGGAGTGAGTGGCCGTGGGTCAGGGCCAGAGCCCCTAGTAGGCCAGAGGCCATCCCTGGGCCCATCCCACACATTGCCAGCATCCCCAAGCTATGGCCTCCCACCCTTGAGCTCCCCACTCCCAGAGGTCAGGAGGGGACTTTCTGATGGAAGACCCAAATGAACACTCATCTGGGGAAACCAAGCCAGGAGAGGCCTGGGGGCCTCAGCCCTCTGCACCCATCTCAGCCCTATGCCGAGTGCCACATGGACCT
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GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCAAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCCCCCCACTGGCAACCAGGCCCTGGAGCCACCCTGACAGCACCGCCTCCCCTGCCCCAACCAAGCCGGCACTGGGGGGCTCCAAGCAGGCAGTGAACTGCCCCCAGGATCTGGTCTCAAGCCTGGAAGGGGACACGGACCAACTGGGAGGGCAGAAGGGATATTGGGGGCCTGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCACTTAAATTAAATAAATTAGCAAATATTCCTTCTTCTAACGTAGAAATCTTGTTGTTGCTTATATCCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAAGAGGCGGTGCCGCCAGCCCACCCGGAGTGAGCCCCGCATGCTGGCACGACTGGGGGACACTCACAGCTCTGCCAGCGCCGAGAGGTTCGCCAGGAGCCCAACGTCCAGCGCCCGGAGCAGGTTGTGGGAGACGTCTCTGAGGAGTGAGTGGCCGTGGGTCAGGGCCAGAGCCCCTAGTAGGCCAGAGGCCATCCCTGGGCCCATCCCACACATTGCCAGCATCCCCAAGCTATGGCCTCCCACCCTTGAGCTCCCCACTCCCAGAGGTCAGGAGGGGACTTTCTGATGGAAGACCCAAATGAACACTCATCTGGGGAAACCAAGCCAGGAGAGGCCTGGGGGCCTCAGCCCTCTGCACCCATCTCAGCCCTATGCCGAGTGCCACATGGACCT
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Task1_train_22178
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The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Polycystic kidney disease, adult type
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GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCT
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GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGGGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCT
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Task1_train_22179
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Consider this mutation in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCTAAACTATTTGAAAAACCATGGGGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGCCACGCGCCTGTAATCCCA
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AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGTATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCTAAACTATTTGAAAAACCATGGGGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGCCACGCGCCTGTAATCCCA
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Task1_train_22180
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A mutation in TRAF7 (TNF receptor associated factor 7), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
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GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCC
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GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCGAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCC
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Task1_train_22181
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This variant affects gene TRAF7 (TNF receptor associated factor 7) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
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GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTG
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GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGGGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTG
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Task1_train_22182
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This alteration in TRAF7 (TNF receptor associated factor 7) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
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CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCC
|
CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTGTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCC
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Task1_train_22183
|
The gene TRAF7 (TNF receptor associated factor 7) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTG
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TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACGAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTG
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Task1_train_22184
|
An alteration has been detected in TRAF7 (TNF receptor associated factor 7) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
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AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGA
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AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTTTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGA
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Task1_train_22185
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Given a variant located on Chromosome 16 and affecting TRAF7 (TNF receptor associated factor 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
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AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGAAGGACCGCAGGCAGACAGCCTGGGCCTCTAACAGCTTTTGTCCGGAGCTAGACTTCGTGTCCTTTCAGTTGGTAAATGGTTTTCTATAGAATCAATAATATTTCTTTCTTTAAATATATATTTGTTAAAGTTATACCTTTTTGTTTCTCTGGGGAAATCCGCCTCAGCTCATTCCCAATAAATTAATACTCTTGATAGCTTATATTCTGGGGGTGCGGTGGGG
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AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCGCCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGAAGGACCGCAGGCAGACAGCCTGGGCCTCTAACAGCTTTTGTCCGGAGCTAGACTTCGTGTCCTTTCAGTTGGTAAATGGTTTTCTATAGAATCAATAATATTTCTTTCTTTAAATATATATTTGTTAAAGTTATACCTTTTTGTTTCTCTGGGGAAATCCGCCTCAGCTCATTCCCAATAAATTAATACTCTTGATAGCTTATATTCTGGGGGTGCGGTGGGG
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Task1_train_22186
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A mutation on Chromosome 16 affecting ABCA3 (ATP binding cassette subfamily A member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGATTAGTGTCGTGTGTAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAA
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GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGATTAGTGTCGTGTGTAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACGGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAA
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Task1_train_22187
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A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCT
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TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAGGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCT
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Task1_train_22188
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Given a variant located on Chromosome 16 and affecting ABCA3 (ATP binding cassette subfamily A member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hereditary pulmonary alveolar proteinosis
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CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
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CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCATGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
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Task1_train_22189
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Located on Chromosome 16, this mutation impacts ABCA3 (ATP binding cassette subfamily A member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
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CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCATGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
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Task1_train_22190
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The gene ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; See cases
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ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTGGTTTTTTCTTTCTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTGGAATCCAGGGGTGCAGGGGTGCAGGGGTGTGATTTCGGCTCACTGCAACCTCTGCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTTAGTAGAGACGAGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGGTCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTATGCACAGCTGCGAAACACTTTCTAAGAATAAAATTAATAGAAGAAGTCACAAGAGAAAGGATGTTGCTACATTAAGTACAAAATCTAGGCCGGGTGCAGTGGCTCACACCTGGAATCCCAGAACTTTGGGAGGCTGAGGCGGAAGGATCACTTAAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATAACAAGACCCCATCTCTACAAAAAAAATAAAAAAACTAGCCGGACATGTTGATACACACCTGTAGTCCCAACTATTCGGGAGGCTGAGGTGGGAGATCACGAGCCCAGGAATTCAAGGCTGCAGTGAGTTGTGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTTTAAAATAAACAAATGTGGCCAGGCATGGTGGCTCATGCCTGACATCTTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGACTGGGCAGCAGAGTGAGGCTCCATCTCAAAACAAATAATAAATAAATAACAAATAAAATAAATAAATGTAAAATGGAAAAAAATCTGACAAAATCAAACAACAAACTGGAGAAAAGTGCAATAAACTGATATTATCCAGATAATATCCAGACTGATAGATAGTGTCATGGAACACTGGCTTCCCTCCCCTTGCTGGTTCTGCCGTGTGTGTGAGACAGTGATGAGCAGGTGGTAACATCTCCAGCTCTGACACTGAGACCAAATTCACCACCCACATACAAATACAGACTCGGTTTCACGAGTAGTTCTGAGTGCAGCCGCAGCACGTGTTGAGCCTGGTGTCAGAAGGGGGAGTGTGAGCCCTGCATCAGCGCTGAGCACCCTTTTGGTGAGTCAGATACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGGACCAGCTGGGAGATGTCTTCCGGGTTGCAGTGCGGCTCCTTCACCAGCGTCATGTGATAGCCGGCACCTGGAATACAGGGCCACGTGTGAGATCTTTGGCTGATCCCCCAGGTCTCTTCATGCCCACCCCGGGGTCTCTAGGGCTCACACCAGGCAAGCTGGTGGGAAGGAGGCTAGAGAACCGGAGGTGGGCAGCTGAAGCAGAATGAATGTGTCTTGGAGCTCCCTGTGCTGTCCCAAGGGTGTCACCTCCCGCTCCTGCTGGGAAGAGCTGCTGGGGATCTAGGGTGCTGAGCACTGTCAGGGGCACCTGCTGGAAGGTGGGGTCTCCCCCCAGCTATACAAGCACCAGGGAAGGATATCATCAGCAGCGACGGACCACGTGTGAGGGCTTCTGTCTTGTGGGGTTAACACTGATGGTTATGGTGTGGTTCTAGGAAGGGACTGTCAGCAGGAGCAGGAGCAAGAGCTACCGGCTGCAAGACCGCACTGCACGGCACTATCAGAGATGCATCTCACCTCTTTCCCAACGTCACCGTGCAGGAGATGGAATTCCATGTCCTTTTTTTTTTTTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGCTGCACAATCTTGGCTCACTGTAACTTCTCCCTCCTTGGTTCAAGTACTTATTCTCCTGCCTCAGCCTCCCCAAGTAGCTGGGATTACAGGCATGCACCACCATACCTGGTTAAGTTTTTGTATTTTAGTAGAGACAGAGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGGTGAGCCACCACGCCTGGCCCCATGTCCTCTTTAGAGACAAGGATGCCAGGCCCAGGAAGAACAATGGCTCTGCCAACTGGGCAGTGGGGCAGGAAGTGGCTAGTGAAACTCTCAGAGGCCGTGGTGGATGGTTCCTCATCTCCTAACGCCTGCTGTCCTCCCTCTTGGTAACAAAACCCTGGTATCTTGGCTGAGCATGTGGCTGCCCAGGACAAAGGCCATCCCCTCCAGCCTACTGCTGACCACACTGGGTTGCCACTCAGTCACTAGGGGGCAGAAGTGGGACGTGAACTTGGGGGGTGTCCTGAGGGGAGGAGGGCTCCTATGTCTTTGCTCCACCCCGTTGGAATGTGGGGGACGCTGGCACACCCAGATCGTGCTGGACCAGGAGGTGACCTTGAAAGGGAAGCCGTAGTTGCACAGTACAGTCAGAGGTCTGGGCCCAGATCCTGTCAGCCCCTGCTGGCCCTGGCCATGCTGTGAGCTGCTCTCACGTGGGAGCTGCCATGTTGGTGCGTGTGTTGGCCTCTCCAAGGGCAGTGCTGCTCCTAGTGGCACTAGGCTTGGCCTCTGTTCTTCTGGTCATGGCTGAACCACATCCTAACCAAATTGAGACTTTCAGCTCCATTTCCTGCCTCTTCCCTCTCACAAGCCCCCCTGCCTGGTTGGGCTCTCCACCCAGAGGCAACAGACAGGAAGTCTAGAAAAGGCCACCCCTGCCTGATCTGAGGGCCCTTCATGAAGGTAGCAGCCATTCCCTCAGCACGGCAGCCAGGACACCGACCCTGTCGCGGGCTGGCCCCACCGCTCACCGTATTTCTGCTTGAGGAACAGCGAGGACCCGCAGCACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAG
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ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTGGTTTTTTCTTTCTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTGGAATCCAGGGGTGCAGGGGTGCAGGGGTGTGATTTCGGCTCACTGCAACCTCTGCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTTAGTAGAGACGAGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGGTCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTATGCACAGCTGCGAAACACTTTCTAAGAATAAAATTAATAGAAGAAGTCACAAGAGAAAGGATGTTGCTACATTAAGTACAAAATCTAGGCCGGGTGCAGTGGCTCACACCTGGAATCCCAGAACTTTGGGAGGCTGAGGCGGAAGGATCACTTAAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATAACAAGACCCCATCTCTACAAAAAAAATAAAAAAACTAGCCGGACATGTTGATACACACCTGTAGTCCCAACTATTCGGGAGGCTGAGGTGGGAGATCACGAGCCCAGGAATTCAAGGCTGCAGTGAGTTGTGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTTTAAAATAAACAAATGTGGCCAGGCATGGTGGCTCATGCCTGACATCTTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGACTGGGCAGCAGAGTGAGGCTCCATCTCAAAACAAATAATAAATAAATAACAAATAAAATAAATAAATGTAAAATGGAAAAAAATCTGACAAAATCAAACAACAAACTGGAGAAAAGTGCAATAAACTGATATTATCCAGATAATATCCAGACTGATAGATAGTGTCATGGAACACTGGCTTCCCTCCCCTTGCTGGTTCTGCCGTGTGTGTGAGACAGTGATGAGCAGGTGGTAACATCTCCAGCTCTGACACTGAGACCAAATTCACCACCCACATACAAATACAGACTCGGTTTCACGAGTAGTTCTGAGTGCAGCCGCAGCACGTGTTGAGCCTGGTGTCAGAAGGGGGAGTGTGAGCCCTGCATCAGCGCTGAGCACCCTTTTGGTGAGTCAGATACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGGACCAGCTGGGAGATGTCTTCCGGGTTGCAGTGCGGCTCCTTCACCAGCGTCCTGTGATAGCCGGCACCTGGAATACAGGGCCACGTGTGAGATCTTTGGCTGATCCCCCAGGTCTCTTCATGCCCACCCCGGGGTCTCTAGGGCTCACACCAGGCAAGCTGGTGGGAAGGAGGCTAGAGAACCGGAGGTGGGCAGCTGAAGCAGAATGAATGTGTCTTGGAGCTCCCTGTGCTGTCCCAAGGGTGTCACCTCCCGCTCCTGCTGGGAAGAGCTGCTGGGGATCTAGGGTGCTGAGCACTGTCAGGGGCACCTGCTGGAAGGTGGGGTCTCCCCCCAGCTATACAAGCACCAGGGAAGGATATCATCAGCAGCGACGGACCACGTGTGAGGGCTTCTGTCTTGTGGGGTTAACACTGATGGTTATGGTGTGGTTCTAGGAAGGGACTGTCAGCAGGAGCAGGAGCAAGAGCTACCGGCTGCAAGACCGCACTGCACGGCACTATCAGAGATGCATCTCACCTCTTTCCCAACGTCACCGTGCAGGAGATGGAATTCCATGTCCTTTTTTTTTTTTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGCTGCACAATCTTGGCTCACTGTAACTTCTCCCTCCTTGGTTCAAGTACTTATTCTCCTGCCTCAGCCTCCCCAAGTAGCTGGGATTACAGGCATGCACCACCATACCTGGTTAAGTTTTTGTATTTTAGTAGAGACAGAGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGGTGAGCCACCACGCCTGGCCCCATGTCCTCTTTAGAGACAAGGATGCCAGGCCCAGGAAGAACAATGGCTCTGCCAACTGGGCAGTGGGGCAGGAAGTGGCTAGTGAAACTCTCAGAGGCCGTGGTGGATGGTTCCTCATCTCCTAACGCCTGCTGTCCTCCCTCTTGGTAACAAAACCCTGGTATCTTGGCTGAGCATGTGGCTGCCCAGGACAAAGGCCATCCCCTCCAGCCTACTGCTGACCACACTGGGTTGCCACTCAGTCACTAGGGGGCAGAAGTGGGACGTGAACTTGGGGGGTGTCCTGAGGGGAGGAGGGCTCCTATGTCTTTGCTCCACCCCGTTGGAATGTGGGGGACGCTGGCACACCCAGATCGTGCTGGACCAGGAGGTGACCTTGAAAGGGAAGCCGTAGTTGCACAGTACAGTCAGAGGTCTGGGCCCAGATCCTGTCAGCCCCTGCTGGCCCTGGCCATGCTGTGAGCTGCTCTCACGTGGGAGCTGCCATGTTGGTGCGTGTGTTGGCCTCTCCAAGGGCAGTGCTGCTCCTAGTGGCACTAGGCTTGGCCTCTGTTCTTCTGGTCATGGCTGAACCACATCCTAACCAAATTGAGACTTTCAGCTCCATTTCCTGCCTCTTCCCTCTCACAAGCCCCCCTGCCTGGTTGGGCTCTCCACCCAGAGGCAACAGACAGGAAGTCTAGAAAAGGCCACCCCTGCCTGATCTGAGGGCCCTTCATGAAGGTAGCAGCCATTCCCTCAGCACGGCAGCCAGGACACCGACCCTGTCGCGGGCTGGCCCCACCGCTCACCGTATTTCTGCTTGAGGAACAGCGAGGACCCGCAGCACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAG
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Task1_train_22191
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The gene ABCA3 (ATP binding cassette subfamily A member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAGCCTGCGATGAGGGCGATGCCGATGGAGAGCTTGCGCCTCATGCCCCCGCTCAGGAAGCGGCTCCGTGAGTTCCACTTGTCCTCCAGGCCGATGATGTGCAGCATCTGCTTGACTTCTTCAGGGCACTTCTGACGTGACAGGCCCTTCAGCTGCAACGACAGGGGACGCAGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCAAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGCGACTGTCAAGTTGTCAAACAGGATGTCGTGCTGCGGGCACAGGCCCAGGCTCTTCCGGATCTGAACCATGTCCTGGGAAATTTCATACCCGCTGATGTATGCCCGTCCACTGGTGGGGGGAAAGAGACCTGGGGCCCAGCAGGAGACCCCACATTCAGCATGAAGATCCTGCTCGTCAGCACCCGCGGTAATGACCCCCCACCCCCTCTCTGTCTCCCCTAATTTCCTCTGAGGACCCTGCCCATGAGAGGGCACGGAACCCCACTCCCACTGGGGTGGGCTTTGGCTGGGCCAGTGGGAAAAAGAAGCGGCATGGAAACAGCCCTGCCACTGGGACGCACAGCTGGTCAGGGAGGAGAAACCCACGACACACACACACAGAGTCACCACAATCAGCCCCCGCCCCGGGTCCCAGCCTGTGCCACTGCCAGACACTTTGGTGCTTGGGGAAGACAGAGTGAAATGCCAGTGGCCGGTGTGGTGCACAGGGGAGAGCTCTCAGAGAGGGGTTTGGTGACAGAATTAGCATGGGGTTGAGCTGCTCCTGCGTGGTGGCCTCTGTTTTCACTGACCCTGTCAAGCTTGGGTATTCACAGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCATGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCGGCATGTCCCGGACAGAGGCGGTGAGGAGGGCAGTCCCTGCTTGTGCCCCTGGGCCTGCAGGGCTGAGGTGCATCTCCTGCCGCTGTGGTTGGGGAAGGCCCGAAAGCCCCATTGAGGGAGTGAGGCGGGGCTGGCGCTGAGATGGTGTTAAAGGGGGGCCTGCTGGTGGCAGGGGCGTGAGGCGCCTGGCCCTCACCTGTGAGCATGGAGAGGGTGGTGGTCTTCCCGGCACCGTTGTGGCCCAGCAGGACGGTGATCTGTCCCTCGTACAGGTTGAGGTTCAGGTCTCTGACGGCCGCCCTGTCCTTATTTCCCACCCTGAACACCTGCAGGAAAGGCAGAGGCTGCCCTGGGCTACCCACAGCCCCGAGGCCCACGGCCAAGGCCTCTCCTGCTCCCCTGCCCGACCGTCTCAGAAGGAACCAAGCCTAGCGTCACCATCAGTGTGCAGAGGGGAGGGACGTTTCGGGCAGATGCTGCTCCTGGCTGCTCCCCTCCGGTCTCCCCCAGCCCCAACACGTCCCAGACACCCTCAGTGTCTCTGCAACCCTGGGAGGCCCATGAGGCCGAGGCACTGCTGGACGGCTGAGTCTGGCATTTCCTGAGAAGCTGGAGATGTGGTCTGTGCCCTGGGGAACCGGTTAGAGGGCAGCGGAGGGTTCCTGCCCTCCTTCAGGGCAGGAGGGAGCAAGGCTCAGAGGGAGCGCCTGACGGGCTATGAGGTCTCACTGCCGTGCTGGTAAGTCTTCCCATGGTCCTGGCAGCCCCGGCCCTCCCTGTCCCCACAGGAGGCGGCACCTTGGACAGGTGCTTGATCTTGATCCCCGCCACCAGGTCCTCTGGCTCGGCTTCAAAGTACTCGTTTCTGAGTGCTTTCTCGGGGTCACTGTCTTCTTCCTCCTTCCCTGCAACCGCCCTTGGCTTCCCACACCAATAGGAGGGCTGGGAGGGAAGCAGACAGCTGTCAGTTTGTTTTGTTTGTGACGAGCAAAGCAACAACCAGCAGACACACTAGATGCACACAGCCATGCAGCCTCTGTCCCAGGACTTCGAGGCACTGCTGTGGAGAAGGCGCTACTCAGGGAGAGCCCCAGAGAGTCCCAACTTGTTTCATCCCTGTGAAGGCTCTAAGCCTCAGTTTCCTAACCTGGTAAGTGGGTGTAATGGTTACATACAGGCTTGTGAAGATGAACTCAGATCCGATACAGGGCAAAGGGAGTTTGTCAGCTATGAAATTTCATAGACAGAAGTTATCTAACGCTCCAGTCCAGAGGGATGTTGGAGCCAAAATGGAAAGAAAGCTGTGTCCCCATGCCACCCGGCTGTTTCTTTGCTCAAGCCCCACATGAGTTCATGACTGTAAGCAAGAGAAGCCGAAGGCGCCACGCCTCCCTCTACTATGAGGAAGCCTCTTCCCATCTTCTCTGTGGCCATCACAGAAATAACTCAGTGCATGGGGTAAGAACACAGGCACACACCTCACACAGTGCCCTCGAGGACAGCCTGGTGCCTACATGGAGGCAGTCGACACAGTGGTGCGGGCAGAGCAGCAGGGAAGGTGGAAGCAGTGCCTTGGCAGGATCAGTGCCAGGGCAGCTGCGGGGCGGGGACTCGTTTACCCGCAGCTCCACGCCCAGTGCACTTCCAGCACCTGGAACGGCATCTGGCACACACTGCACTCCACTGGTTCTCAGGGACACAGCTCTCATATGTAAAGTGATTTTAAAATCAGAATGCATCTTGGCTGGGCACGGTGGCTCGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAATCAGAATGCATCTTAAACTATAAAATGCCATAGTGTAAGTGTGGCATTTTTCTTTCTTAGTGATAGACAAAGTAACCATTACCTCTAACGGTCAGTGTCATCTTACAGTTGATGGATTACAGTAGTGAACACTTGATAACTACTTGTGGAAGCAAAGAATGAAAACAGAAATGGCCTCGGCTGGAGGTGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACC
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ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAGCCTGCGATGAGGGCGATGCCGATGGAGAGCTTGCGCCTCATGCCCCCGCTCAGGAAGCGGCTCCGTGAGTTCCACTTGTCCTCCAGGCCGATGATGTGCAGCATCTGCTTGACTTCTTCAGGGCACTTCTGACGTGACAGGCCCTTCAGCTGCAACGACAGGGGACGCAGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCAAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGCGACTGTCAAGTTGTCAAACAGGATGTCGTGCTGCGGGCACAGGCCCAGGCTCTTCCGGATCTGAACCATGTCCTGGGAAATTTCATACCCGCTGATGTATGCCCGTCCACTGGTGGGGGGAAAGAGACCTGGGGCCCAGCAGGAGACCCCACATTCAGCATGAAGATCCTGCTCGTCAGCACCCGCGGTAATGACCCCCCACCCCCTCTCTGTCTCCCCTAATTTCCTCTGAGGACCCTGCCCATGAGAGGGCACGGAACCCCACTCCCACTGGGGTGGGCTTTGGCTGGGCCAGTGGGAAAAAGAAGCGGCATGGAAACAGCCCTGCCACTGGGACGCACAGCTGGTCAGGGAGGAGAAACCCACGACACACACACACAGAGTCACCACAATCAGCCCCCGCCCCGGGTCCCAGCCTGTGCCACTGCCAGACACTTTGGTGCTTGGGGAAGACAGAGTGAAATGCCAGTGGCCGGTGTGGTGCACAGGGGAGAGCTCTCAGAGAGGGGTTTGGTGACAGAATTAGCATGGGGTTGAGCTGCTCCTGCGTGGTGGCCTCTGTTTTCACTGACCCTGTCAAGCTTGGGTATTCACAGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCATGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCGGCATGTCCCGGACAGAGGCGGTGAGGAGGGCAGTCCCTGCTTGTGCCCCTGGGCCTGCAGGGCTGAGGTGCATCTCCTGCCGCTGTGGTTGGGGAAGGCCCGAAAGCCCCATTGAGGGAGTGAGGCGGGGCTGGCGCTGAGATGGTGTTAAAGGGGGGCCTGCTGGTGGCAGGGGCGTGAGGCGCCTGGCCCTCACCTGTGAGCATGGAGAGGGTGGTGGTCTTCCCGGCACCGTCGTGGCCCAGCAGGACGGTGATCTGTCCCTCGTACAGGTTGAGGTTCAGGTCTCTGACGGCCGCCCTGTCCTTATTTCCCACCCTGAACACCTGCAGGAAAGGCAGAGGCTGCCCTGGGCTACCCACAGCCCCGAGGCCCACGGCCAAGGCCTCTCCTGCTCCCCTGCCCGACCGTCTCAGAAGGAACCAAGCCTAGCGTCACCATCAGTGTGCAGAGGGGAGGGACGTTTCGGGCAGATGCTGCTCCTGGCTGCTCCCCTCCGGTCTCCCCCAGCCCCAACACGTCCCAGACACCCTCAGTGTCTCTGCAACCCTGGGAGGCCCATGAGGCCGAGGCACTGCTGGACGGCTGAGTCTGGCATTTCCTGAGAAGCTGGAGATGTGGTCTGTGCCCTGGGGAACCGGTTAGAGGGCAGCGGAGGGTTCCTGCCCTCCTTCAGGGCAGGAGGGAGCAAGGCTCAGAGGGAGCGCCTGACGGGCTATGAGGTCTCACTGCCGTGCTGGTAAGTCTTCCCATGGTCCTGGCAGCCCCGGCCCTCCCTGTCCCCACAGGAGGCGGCACCTTGGACAGGTGCTTGATCTTGATCCCCGCCACCAGGTCCTCTGGCTCGGCTTCAAAGTACTCGTTTCTGAGTGCTTTCTCGGGGTCACTGTCTTCTTCCTCCTTCCCTGCAACCGCCCTTGGCTTCCCACACCAATAGGAGGGCTGGGAGGGAAGCAGACAGCTGTCAGTTTGTTTTGTTTGTGACGAGCAAAGCAACAACCAGCAGACACACTAGATGCACACAGCCATGCAGCCTCTGTCCCAGGACTTCGAGGCACTGCTGTGGAGAAGGCGCTACTCAGGGAGAGCCCCAGAGAGTCCCAACTTGTTTCATCCCTGTGAAGGCTCTAAGCCTCAGTTTCCTAACCTGGTAAGTGGGTGTAATGGTTACATACAGGCTTGTGAAGATGAACTCAGATCCGATACAGGGCAAAGGGAGTTTGTCAGCTATGAAATTTCATAGACAGAAGTTATCTAACGCTCCAGTCCAGAGGGATGTTGGAGCCAAAATGGAAAGAAAGCTGTGTCCCCATGCCACCCGGCTGTTTCTTTGCTCAAGCCCCACATGAGTTCATGACTGTAAGCAAGAGAAGCCGAAGGCGCCACGCCTCCCTCTACTATGAGGAAGCCTCTTCCCATCTTCTCTGTGGCCATCACAGAAATAACTCAGTGCATGGGGTAAGAACACAGGCACACACCTCACACAGTGCCCTCGAGGACAGCCTGGTGCCTACATGGAGGCAGTCGACACAGTGGTGCGGGCAGAGCAGCAGGGAAGGTGGAAGCAGTGCCTTGGCAGGATCAGTGCCAGGGCAGCTGCGGGGCGGGGACTCGTTTACCCGCAGCTCCACGCCCAGTGCACTTCCAGCACCTGGAACGGCATCTGGCACACACTGCACTCCACTGGTTCTCAGGGACACAGCTCTCATATGTAAAGTGATTTTAAAATCAGAATGCATCTTGGCTGGGCACGGTGGCTCGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAATCAGAATGCATCTTAAACTATAAAATGCCATAGTGTAAGTGTGGCATTTTTCTTTCTTAGTGATAGACAAAGTAACCATTACCTCTAACGGTCAGTGTCATCTTACAGTTGATGGATTACAGTAGTGAACACTTGATAACTACTTGTGGAAGCAAAGAATGAAAACAGAAATGGCCTCGGCTGGAGGTGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACC
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Task1_train_22192
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A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hereditary pulmonary alveolar proteinosis
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AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGCGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
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AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGTGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
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Task1_train_22193
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An alteration has been detected in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not specified
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AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGCGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
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AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGTGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
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Task1_train_22194
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Consider a variant on Chromosome 16 in gene ABCA3 (ATP binding cassette subfamily A member 3). Determine its clinical classification and disease relevance.
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTA
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CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAGGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTA
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Task1_train_22195
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A genomic change on Chromosome 16 affects ABCA3 (ATP binding cassette subfamily A member 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hereditary pulmonary alveolar proteinosis
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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Task1_train_22196
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A mutation in ABCA3 (ATP binding cassette subfamily A member 3), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Interstitial lung disease due to ABCA3 deficiency
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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Task1_train_22197
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This variant affects the gene ABCA3 (ATP binding cassette subfamily A member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
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Task1_train_22198
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Chromosome 16 houses a mutation in gene CCNF (cyclin F). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
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TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTTTCTTCTACCAGTTAACTGCTTATCTGCTCAGCACCCCAAGGAACGAGCCCATGATCTGTCCCAGCTCTCAAAACAAGTAAACACTGGGATGTAGCCTCCCACATTTGTACTTCTAAACGATCTGGTGTCTTGCTGGGAGAGAGTCCCTACCTGGCCGGCTGGCAGAATTGTGACTGACAGGGACCATGAGCAACACCCTCCTCCAGAATCAGGGGAGCCGAGGTCCTACCCCTACCCTCCCATCAAAGAGCAGTTCCCAGACATAAAATTCACACACCATACAGTTCACCCCTCTAAAGCCTGCAATTCTGTGGTTTTTTAGGATATTCACAGGGTTGTGCAGCCATTGCCACTGTCTAATTTTAGAATATTCTCCTCGTCCCAAAAAGAACCCCCACCCCTGCCCTGGACCCATTACCAGGGGTCAGGCGGTGGTTCCCAGCTGGAGGGAGGGTGGGACATGAAGCGTCGCGGGGTCTCCTTCCCCTGACCTTCAGAATCCAGGCTTCCGGGAGGACCACAGCAGGGGCATTGATCACAATGACCCACCTGTTCTAGACATTAATGAAGTAGGGGGAGAAAAGACAGGTGCCCCCATCCTGGAGGGCTCTACTCTCCTGAAACACAGCTGCTTTGCACTATGGTGGGCTTCAGGCATTACACTTTCCACCAAGACCATGGAGAGCTTTCCACATTCCGTCCCTAAGAGACATCCCTGGGCTCTGTCCTGTCTGTCCCCGCAGTGTCTGTGTCTGATGAGGCCCGCGCAGAAGTGAATGGCCTGAAGGCCTCTCGCTTCTTCAGTCTCGCTGAGCGGCTGAATGTGGGTGCCGCACCTTTCATCTGGCTCTTCATCCGCCCTCCGTGGTCGGTGAGCGGAAGCTGCTGCAAGGCCGTGGTTCACGAGAGCCTCAGGGCAGAGTGCCAGCTGCAGAGGGTGAGTCTGGGCGAGGGGCAGCACCTGCGAGGCCACCTGCAGGGTCCCAGGACACAGGAAGACCCCGAGGGTAGATCCTGGACCCTGGAAAGTCAGGAGCCTAAGGGAAGTGAAGATGCAGAAAACTGAGAGTGCAGATATGGGGAACGCATCTGGAAATCAGCTGGCACAGAGGAGGAAGCCTGAGAGCCAGGGTGGGCTGTGGAGTTCTGGGTACACGTGCTGACAGCTGGAAACATGGGGCTGAGGCTGCATGGGGCAGTGGGAGCTCAAGACACAAATCTGGCCAGGTGTGGTGGCTCACGCCTGTCATCCTAGCACTTTGGGAGGCCGAGGCTGGAGAATTGCTTGTGGCCAGGTGTTCGAGACCAGTCTGGGCAACATGATGAAATCTCGAAACCTCGTCTCTACAAAAAATACAAAAAAGTTAGCCAGGGGTGGTGGTGCATACCTATAGTCCCAGCTACTCAGGAGGCTGCGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGCTTGCAATGAGCCGTGACTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCCCTTTAAAAAAAAAAAAAAAAAAAGACTGAAATCTGGGAGTGGCCCTCTGCAGGGGAGGGAGGGCCAGACAGCAGGGCCATGGGCATGGGACCCAAAGACAGACAAGGGAGTGGTGGCCCCCGGGCAGTTCTCTGTGCTGGAAATCACACTTCTTTCTCCTTTTTTTAAAGACTCACAAAGCATCCATATTGCACTGCTTGGGCAGAGTGCTGAGTCTGTTCGAGGTGAGTCAAGTTGTTCTCTGCACTGGGACTTTGTGTTCGATACATCCCTAGCCGAGATCCTGGAACTGAAAAGCAGCAGAAGGGGGTGTCCAAGGCCCAAAACAAAAGGCAAGCCTTGCCCAGAAAGGCCTAGCTGGAGAAGCCAGGGGACACATGTGGGCCTGGCCACGGGCTCCGATCCTGGCTCCATGACCCGCCTGGCAGGGGAGTGGGGGACGGTGAGAACAGCAGAGCAGATCTCAAGGAGGCATCGAACCTCGATGCTCACTCGTCTGCTGGCCCTGCTCCTCGTGGGCCTCTCCTGCTCGTGTGGACCTCTCTGCCTGGCCAAAATGGTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCAGTCTCAGAAAAAAAAAAAAAAAGTATGGAAAAGGAGGAAGATGGTGAGTAGAGTGATTGAACATCAAGTAAAGAATAAGGGCCGGTCATGGTGGCTCATTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAATGTGTTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGGCATGAGAGTTGCTTGAACCCGGGAAGCTGAGGTTTTAGTTAGCCAAGATCGTGCCACTATACTTTGGCCTGGGTGACAGAGGGAGACTCTGCCTCAACAACAACAAAAAAACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGTGGATCACCTGAGGCCAGGATTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAGGATGGCGCCATTGCACTCCAACCTGGGCGACGAGTGAAACTGTCTCAAAAAATAAAAATGAAAAAGAATAAGGGAACAATGAACTCTGCTGGGATTTATTCTAGGATGAGGAGAAGCAGCAGCAGGCCCATGACCTGTTTGAGGAGGCTGCTCATCAGGGATGTCTGACCAGCTCCTACCTCCTCTGGGAAAGCGACAGGAGGACAGATGTGAGTGGTGCCTGCTCTGGGTCGGGGGGAGTTATGCTGGACAAAGGCGTAGTTGATGCTGGTCCTTGGATGCGTTTCTGTCCACAAAAGGGAGGTGGCTCTTGCTGCTCCCGGTCTCTCAGCCTCCGGGAACCACTGGTCAGTCGGCTATTCTTGGTACCCCCAAAAATGACTCCACCATTTGAGAGAGAAGAGGTGGGAAGTTAGCGTAGTGTCGGCCCTTCTGGGTCTTGGTTCTGAGTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTCTCCCTCCAGCCTTGGGGCAGGACTATCTGGGCTCCCACATTGGGGGGCAGGACTATCTGGGCTCCCACATGGGAGGCCAGGATTGAGGGACACCCTAAGATCGGTTCAGCACTGGAACTGGTCCTAAAGGACAGGTACACTGTGAGAAGAGCTGGGAAATGCGTTATTCATCTCTGCCTATCCACTCTTGCCTCTCAGCCAGCCAACCTCTTAATTTTCAAATGCTTGTGAGCTATAGCTGCTGTCAAAATTTGTGCCATTCTTGAAAGTTGTCCCATAGGTAGAACTGATCTT
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TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTTTCTTCTACCAGTTAACTGCTTATCTGCTCAGCACCCCAAGGAACGAGCCCATGATCTGTCCCAGCTCTCAAAACAAGTAAACACTGGGATGTAGCCTCCCACATTTGTACTTCTAAACGATCTGGTGTCTTGCTGGGAGAGAGTCCCTACCTGGCCGGCTGGCAGAATTGTGACTGACAGGGACCATGAGCAACACCCTCCTCCAGAATCAGGGGAGCCGAGGTCCTACCCCTACCCTCCCATCAAAGAGCAGTTCCCAGACATAAAATTCACACACCATACAGTTCACCCCTCTAAAGCCTGCAATTCTGTGGTTTTTTAGGATATTCACAGGGTTGTGCAGCCATTGCCACTGTCTAATTTTAGAATATTCTCCTCGTCCCAAAAAGAACCCCCACCCCTGCCCTGGACCCATTACCAGGGGTCAGGCGGTGGTTCCCAGCTGGAGGGAGGGTGGGACATGAAGCGTCGCGGGGTCTCCTTCCCCTGACCTTCAGAATCCAGGCTTCCGGGAGGACCACAGCAGGGGCATTGATCACAATGACCCACCTGTTCTAGACATTAATGAAGTAGGGGGAGAAAAGACAGGTGCCCCCATCCTGGAGGGCTCTACTCTCCTGAAACACAGCTGCTTTGCACTATGGTGGGCTTCAGGCATTACACTTTCCACCAAGACCATGGAGAGCTTTCCACATTCCGTCCCTAAGAGACATCCCTGGGCTCTGTCCTGTCTGTCCCCGCAGTGTCTGTGTCTGATGAGGCCCGCGCAGAAGTGAATGGCCTGAAGGCCTCTCGCTTCTTCAGTCTCGCTGAGCGGCTGAATGTGGGTGCCGCACCTTTCATCTGGCTCTTCATCCGCCCTCCGTGGTCGGTGAGCGGAAGCTGCTGCAAGGCCGTGGTTCACGAGAGCCTCAGGGCAGAGTGCCAGCTGCAGAGGGTGAGTCTGGGCGAGGGGCAGCACCTGCGAGGCCACCTGCAGGGTCCCAGGACACAGGAAGACCCCGAGGGTAGATCCTGGACCCTGGAAAGTCAGGAGCCTAAGGGAAGTGAAGATGCAGAAAACTGAGAGTGCAGATATGGGGAACGCATCTGGAAATCAGCTGGCACAGAGGAGGAAGCCTGAGAGCCAGGGTGGGCTGTGGAGTTCTGGGTACACGTGCTGACAGCTGGAAACATGGGGCTGAGGCTGCATGGGGCAGTGGGAGCTCAAGACACAAATCTGGCCAGGTGTGGTGGCTCACGCCTGTCATCCTAGCACTTTGGGAGGCCGAGGCTGGAGAATTGCTTGTGGCCAGGTGTTCGAGACCAGTCTGGGCAACATGATGAAATCTCGAAACCTCGTCTCTACAAAAAATACAAAAAAGTTAGCCAGGGGTGGTGGTGCATACCTATAGTCCCAGCTACTCAGGAGGCTGCGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGCTTGCAATGAGCCGTGACTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCCCTTTAAAAAAAAAAAAAAAAAAAGACTGAAATCTGGGAGTGGCCCTCTGCAGGGGAGGGAGGGCCAGACAGCAGGGCCATGGGCATGGGACCCAAAGACAGACAAGGGAGTGGTGGCCCCCGGGCAGTTCTCTGTGCTGGAAATCACACTTCTTTCTCCTTTTTTTAAAGACTCACAAAGCATCCATATTGCACTGCTTGGGCAGAGTGCTGAGGCTGTTCGAGGTGAGTCAAGTTGTTCTCTGCACTGGGACTTTGTGTTCGATACATCCCTAGCCGAGATCCTGGAACTGAAAAGCAGCAGAAGGGGGTGTCCAAGGCCCAAAACAAAAGGCAAGCCTTGCCCAGAAAGGCCTAGCTGGAGAAGCCAGGGGACACATGTGGGCCTGGCCACGGGCTCCGATCCTGGCTCCATGACCCGCCTGGCAGGGGAGTGGGGGACGGTGAGAACAGCAGAGCAGATCTCAAGGAGGCATCGAACCTCGATGCTCACTCGTCTGCTGGCCCTGCTCCTCGTGGGCCTCTCCTGCTCGTGTGGACCTCTCTGCCTGGCCAAAATGGTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCAGTCTCAGAAAAAAAAAAAAAAAGTATGGAAAAGGAGGAAGATGGTGAGTAGAGTGATTGAACATCAAGTAAAGAATAAGGGCCGGTCATGGTGGCTCATTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAATGTGTTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGGCATGAGAGTTGCTTGAACCCGGGAAGCTGAGGTTTTAGTTAGCCAAGATCGTGCCACTATACTTTGGCCTGGGTGACAGAGGGAGACTCTGCCTCAACAACAACAAAAAAACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGTGGATCACCTGAGGCCAGGATTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAGGATGGCGCCATTGCACTCCAACCTGGGCGACGAGTGAAACTGTCTCAAAAAATAAAAATGAAAAAGAATAAGGGAACAATGAACTCTGCTGGGATTTATTCTAGGATGAGGAGAAGCAGCAGCAGGCCCATGACCTGTTTGAGGAGGCTGCTCATCAGGGATGTCTGACCAGCTCCTACCTCCTCTGGGAAAGCGACAGGAGGACAGATGTGAGTGGTGCCTGCTCTGGGTCGGGGGGAGTTATGCTGGACAAAGGCGTAGTTGATGCTGGTCCTTGGATGCGTTTCTGTCCACAAAAGGGAGGTGGCTCTTGCTGCTCCCGGTCTCTCAGCCTCCGGGAACCACTGGTCAGTCGGCTATTCTTGGTACCCCCAAAAATGACTCCACCATTTGAGAGAGAAGAGGTGGGAAGTTAGCGTAGTGTCGGCCCTTCTGGGTCTTGGTTCTGAGTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTCTCCCTCCAGCCTTGGGGCAGGACTATCTGGGCTCCCACATTGGGGGGCAGGACTATCTGGGCTCCCACATGGGAGGCCAGGATTGAGGGACACCCTAAGATCGGTTCAGCACTGGAACTGGTCCTAAAGGACAGGTACACTGTGAGAAGAGCTGGGAAATGCGTTATTCATCTCTGCCTATCCACTCTTGCCTCTCAGCCAGCCAACCTCTTAATTTTCAAATGCTTGTGAGCTATAGCTGCTGTCAAAATTTGTGCCATTCTTGAAAGTTGTCCCATAGGTAGAACTGATCTT
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Task1_train_22199
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The gene CCNF (cyclin F) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
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CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCACAAGACCTGATTGCAGTGGTCCATATAACTATCACCACAGCTCCCTCAAATCAACTCTGCCTTATTATCTTTTTTTTTTTTTTTTTTAAATCCGGGGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGTGGGCGGATCGTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATTACACCATTGCACTGCAGCCTGGGCAATGGCGCAAGACTCTGTCTCAAAAAAATACAAACAAAATTAGCCAGACGTGGTAGTGGGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTAATCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAAAAAAAAAGATTTTAAAGGCTGAGCTGCCCCCCACCTCTGCTCTCAGAGGTGCCCTGCCCCCACCAGCCATCTCACACCCCACGCTGGGCTCTCATTGGCCACTGACATCTTGTCTTTTTGGCGTCTGCAGCCCCCACGCTGGCAGGTGTAGTCCCTGCGCCTCTTGTCCTCTTGGTCAAGTGAATGACGCATGCAACCTGCAGAGTCCCCAGGACAGAGCAGCCAAGGGACTTGGCCTCAGTCCAAGGGGAAGGTGCCTTGCGGGGGGCCGCTGGAGCAGCGTGTTCCCTGATAGTTGGCGCTGGTTGACAACAGAGAACAGGGTGACCATCGCCTAGAGACAGTCAGGATTCCTGCGGCCACACAGTGCCGGGCACAGACTTTCCAACAACCCTTGGGCCCTTTGCCTCCAATTCCTAGATCTGGTGACTCACCCACCTTCTGGGTCTATAACATTTCTACCCCACTGATAGAGCTGTCACGTGACAGGCAAATCTCTGTCCTTGGTGTCTTTTAGCAAACTGAATGCTCAGGGCACTTGGGCCTTTTGCAGACATTTGTGAGTCTGCCTAACAGCCTTGCTGCTTTCTGTCTGCCTTGTGGCTCTCATCCCTCTTTCCAGCACTTTCTGACCTCCCCTTTGTTATTATTATGATGATTATTTTTTGAGACAGTGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTGTAATCAAAGCTCACTGCAGCCTCAACTTCCTGGGCTTAAGCAATCCTCCCACCTTAGCGTCCCAAGTAACTGAGACTATAGGCACGTGCCACCATGCTCTGCTAATTTTTTATTTTTTAACTTTTTGAAGAGATAGGGTCTTGCTTTGTTGCCCAGGGTGGTCTCGAACTCCTGGCTGAGCTGTCCTCCTGCCTGGGCCTCCCCTTTTTTAAATGCCCCTTGTCAGCCACAGGCAGCTGGCTCCATTATGAAGCCTCTGTTTGTCACCAAAGCCCAACGCCATGGCTCCCTCCCTACCTTGAGGCCTCCTAAAGCCTTGGGTCCCTCCGCCCCACCCCTGCCCCAGGAAGTGGGCTCCACCCTGAGACCCCTTCTCGGCGTTGCAGGTTTATCAGTAAAGAGATCCTGACCATCCGGGAGGCCGTATGGCTCACGGACAACACTTACAAGTACGAGGACCTGGTGAGAATGATGGGCGAGATCGTCTCCGCCTTGGAAGGGAAGATTCGAGTAAGCAGCGGTTCCATTTTCCTTATTAATCTTCGTTGTCGCTGTGCTGGAGGGTGGGGGTGGGCATTCAGCTTTCCTGCTGTGGGAGGGCCTCATGGACTCAGAGAGCAGCTGTCTCTGCTGTGCCCAAAGCCATGGAGCAGGAGGCCACGGTTGCACCACGTCGCCATCTGCGCTGGTGCGCTACGCGTGCAGCATCGGCGTGAACATCATCCGGGCCAGACCCTGCGCTGGGCCTGCATGCGGCACTGCACCAAGGAGCCCCCGAGCGCTGAGAGCCCACACCCCGTCCCGGCTGTCTAGGTCCCCACTGTGGTGGATTACAAGGAGGTCCTGCTGACGCTAGTCCCTGTGGAGCTGAGAACCCAGCACCTGTGCAGCTTCCTCTGCGAGCTCTCCCTGCTGCACACCAGCCTGTCCGCCTACGCCCCAGCCCGCCTGGCTGCCGCAGCCCTGCTCCTGGCCAGACTGACGCACGGGCAGAGTAAGGAGTGGCCCTTCCCAGGGATGCCTGTGTCGGGGAAGGTGCTGACATAGGAGGAGGCTGTGGGGAGGAAAAGAGTCCAGCATCCATTTGTCCTGGTTACTTCTTGGGGGGTGAGATACAGCACGGCTCCTACCTTCAGTGATGTCCCAGATTTCTGACCATGAGCCTGCACGCCCTATGTATGGGTTTTTTTCAAAACTATTTTAAAAGGATTGCAACCCTGAGCTCCAAGAAACTCCACAGCAGAGCCCACAGAGCTATAGAGCGGGAGTGTTCAGGCGGCTGTCACCACAGCCCCTCCGTCCCCTCCATCCCCTCCGTCCCCTCCATCCCCTCCACCCCTGGCCTGCTTTCCTCCCCAGCACAGCCCTGGACCACTCAGCTGTGGGACCTCACCGGATTCTCCTATGAAGACCTCATTCCCTGCGTCTTGAGCCTCCATAAGAAGTGGTGAGTTTTGGCCGGGCGCAGAGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGCAGAGGTTGCAGTGAGTTGATATCACGTCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAAACAACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGCGGATCACCGAGGTCAGGAGTTCAAGACCAACCTGGTCAACGTGGCAAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCCAGGCAACGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGTTCCAGTAGTTTCTTATCTCACACATTTTTCACATTGAGAGCAGCTGCTCCCAACCCAAGCTCATTGCACAGGCAGCAGAACATACTAGAAAAAATGAGGGCATCTCCCTGACCCGTGGTAACTTGTGCGTGTTGTCAAGTTGTCATCTAGCTCAGGCACTGGCACACCGTGGCCCTCAGGCGGCATCTGGCTGCTTTTGCGAATGGGGTTTTCTTGGCAGCAGCCACCCTCACTGGTTTCCACATTGTCTGCTGCTGCTTTTGCTCTGGCGGTGGCTGAGCTCATAGTGCAGCGGACACCACGTGGCCCCCAGTCAGGAAAATACTCCCCTTCCCTTGAGAGAACAGCTTCTGCCCTGATGCAGCTGCTGGGATAGAGCTATCCTCTGTCTCACTGAGAAGATGGAGACTGCGGGTGGGTCCCTTGCGCCGTCGTGCCCGGATGTGACCCCCTGT
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CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCACAAGACCTGATTGCAGTGGTCCATATAACTATCACCACAGCTCCCTCAAATCAACTCTGCCTTATTATCTTTTTTTTTTTTTTTTTTAAATCCGGGGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGTGGGCGGATCGTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATTACACCATTGCACTGCAGCCTGGGCAATGGCGCAAGACTCTGTCTCAAAAAAATACAAACAAAATTAGCCAGACGTGGTAGTGGGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTAATCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAAAAAAAAAGATTTTAAAGGCTGAGCTGCCCCCCACCTCTGCTCTCAGAGGTGCCCTGCCCCCACCAGCCATCTCACACCCCACGCTGGGCTCTCATTGGCCACTGACATCTTGTCTTTTTGGCGTCTGCAGCCCCCACGCTGGCAGGTGTAGTCCCTGCGCCTCTTGTCCTCTTGGTCAAGTGAATGACGCATGCAACCTGCAGAGTCCCCAGGACAGAGCAGCCAAGGGACTTGGCCTCAGTCCAAGGGGAAGGTGCCTTGCGGGGGGCCGCTGGAGCAGCGTGTTCCCTGATAGTTGGCGCTGGTTGACAACAGAGAACAGGGTGACCATCGCCTAGAGACAGTCAGGATTCCTGCGGCCACACAGTGCCGGGCACAGACTTTCCAACAACCCTTGGGCCCTTTGCCTCCAATTCCTAGATCTGGTGACTCACCCACCTTCTGGGTCTATAACATTTCTACCCCACTGATAGAGCTGTCACGTGACAGGCAAATCTCTGTCCTTGGTGTCTTTTAGCAAACTGAATGCTCAGGGCACTTGGGCCTTTTGCAGACATTTGTGAGTCTGCCTAACAGCCTTGCTGCTTTCTGTCTGCCTTGTGGCTCTCATCCCTCTTTCCAGCACTTTCTGACCTCCCCTTTGTTATTATTATGATGATTATTTTTTGAGACAGTGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTGTAATCAAAGCTCACTGCAGCCTCAACTTCCTGGGCTTAAGCAATCCTCCCACCTTAGCGTCCCAAGTAACTGAGACTATAGGCACGTGCCACCATGCTCTGCTAATTTTTTATTTTTTAACTTTTTGAAGAGATAGGGTCTTGCTTTGTTGCCCAGGGTGGTCTCGAACTCCTGGCTGAGCTGTCCTCCTGCCTGGGCCTCCCCTTTTTTAAATGCCCCTTGTCAGCCACAGGCAGCTGGCTCCATTATGAAGCCTCTGTTTGTCACCAAAGCCCAACGCCATGGCTCCCTCCCTACCTTGAGGCCTCCTAAAGCCTTGGGTCCCTCCGCCCCACCCCTGCCCCAGGAAGTGGGCTCCACCCTGAGACCCCTTCTCGGCGTTGCAGGTTTATCAGTAAAGAGATCCTGACCATCCGGGAGGCCGTATGGCTCACGGACAACACTTACAAGTACGAGGACCTGGTGACAATGATGGGCGAGATCGTCTCCGCCTTGGAAGGGAAGATTCGAGTAAGCAGCGGTTCCATTTTCCTTATTAATCTTCGTTGTCGCTGTGCTGGAGGGTGGGGGTGGGCATTCAGCTTTCCTGCTGTGGGAGGGCCTCATGGACTCAGAGAGCAGCTGTCTCTGCTGTGCCCAAAGCCATGGAGCAGGAGGCCACGGTTGCACCACGTCGCCATCTGCGCTGGTGCGCTACGCGTGCAGCATCGGCGTGAACATCATCCGGGCCAGACCCTGCGCTGGGCCTGCATGCGGCACTGCACCAAGGAGCCCCCGAGCGCTGAGAGCCCACACCCCGTCCCGGCTGTCTAGGTCCCCACTGTGGTGGATTACAAGGAGGTCCTGCTGACGCTAGTCCCTGTGGAGCTGAGAACCCAGCACCTGTGCAGCTTCCTCTGCGAGCTCTCCCTGCTGCACACCAGCCTGTCCGCCTACGCCCCAGCCCGCCTGGCTGCCGCAGCCCTGCTCCTGGCCAGACTGACGCACGGGCAGAGTAAGGAGTGGCCCTTCCCAGGGATGCCTGTGTCGGGGAAGGTGCTGACATAGGAGGAGGCTGTGGGGAGGAAAAGAGTCCAGCATCCATTTGTCCTGGTTACTTCTTGGGGGGTGAGATACAGCACGGCTCCTACCTTCAGTGATGTCCCAGATTTCTGACCATGAGCCTGCACGCCCTATGTATGGGTTTTTTTCAAAACTATTTTAAAAGGATTGCAACCCTGAGCTCCAAGAAACTCCACAGCAGAGCCCACAGAGCTATAGAGCGGGAGTGTTCAGGCGGCTGTCACCACAGCCCCTCCGTCCCCTCCATCCCCTCCGTCCCCTCCATCCCCTCCACCCCTGGCCTGCTTTCCTCCCCAGCACAGCCCTGGACCACTCAGCTGTGGGACCTCACCGGATTCTCCTATGAAGACCTCATTCCCTGCGTCTTGAGCCTCCATAAGAAGTGGTGAGTTTTGGCCGGGCGCAGAGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGCAGAGGTTGCAGTGAGTTGATATCACGTCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAAACAACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGCGGATCACCGAGGTCAGGAGTTCAAGACCAACCTGGTCAACGTGGCAAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCCAGGCAACGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGTTCCAGTAGTTTCTTATCTCACACATTTTTCACATTGAGAGCAGCTGCTCCCAACCCAAGCTCATTGCACAGGCAGCAGAACATACTAGAAAAAATGAGGGCATCTCCCTGACCCGTGGTAACTTGTGCGTGTTGTCAAGTTGTCATCTAGCTCAGGCACTGGCACACCGTGGCCCTCAGGCGGCATCTGGCTGCTTTTGCGAATGGGGTTTTCTTGGCAGCAGCCACCCTCACTGGTTTCCACATTGTCTGCTGCTGCTTTTGCTCTGGCGGTGGCTGAGCTCATAGTGCAGCGGACACCACGTGGCCCCCAGTCAGGAAAATACTCCCCTTCCCTTGAGAGAACAGCTTCTGCCCTGATGCAGCTGCTGGGATAGAGCTATCCTCTGTCTCACTGAGAAGATGGAGACTGCGGGTGGGTCCCTTGCGCCGTCGTGCCCGGATGTGACCCCCTGT
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Subsets and Splits
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