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_700
|
The gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
|
GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGT
|
GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCTACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGT
|
Task1_train_701
|
A change on Chromosome 1 affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
|
AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGG
|
AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCCACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGG
|
Task1_train_702
|
Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
|
TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTC
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TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCACTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTC
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Task1_train_703
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This sequence variant lies in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCT
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GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCCGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCT
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Task1_train_704
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An alteration has been detected in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Rare genetic deafness
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TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCT
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TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTCGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCT
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Task1_train_705
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Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAAC
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AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATCGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAAC
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Task1_train_706
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This alteration in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Nonsyndromic genetic hearing loss
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AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
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AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCAGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
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Task1_train_707
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A sequence alteration has been identified in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; not provided
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AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
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AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCTGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
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Task1_train_708
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Gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTA
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CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATCGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTA
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Task1_train_709
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This sequence change occurs on Chromosome 1, altering KCNQ4 (potassium voltage-gated channel subfamily Q member 4). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCG
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TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACATCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCG
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Task1_train_710
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The variant affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGT
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CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACTGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGT
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Task1_train_711
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Chromosome 1 houses a mutation in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGA
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TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGAGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGA
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Task1_train_712
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Consider a variant on Chromosome 1 in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Determine its clinical classification and disease relevance.
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Pathogenic; Cardiomyopathy, dilated, 2c
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CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTCTTTACTGATTTGTCTCCCACATTGGAATGTTAGATCTTTGAAGGAACTGATCTACCGAGCTGCCCCAGTAACTTTAGCACCTAAAATAGTGCATAACACAGAGTACGCCTTCAGAAAACATGAGTGACGAATAAGTGGGAGATGAGACAGACGAGGCCACGGGAGTCTTAGGGGCCTGTCTTAAAGCCGTTTTGAGGTGTCCCTTGCAGAGTCAGGGGCAACGGCTAACGCAAGGTACCCAAGCCAGACCCGGGAAAGGGAGAGAGGGAGGGAGTTATAGCGCCCAGGTGCCACGTTTCAGGGCCTACCAGTAATAAGTGACTGTGCAGGCCGCGCACACCCGCTCGGCTGGGGCTTCGCACACCTCACAGCAGAGTCTGCGCCCCTTGGGGACTGCCAGTGGGTAGATCACATTCATGGTGCAGCCAGCAGTGCTGGTCTCTAAGACGGTTGCCCAGCAAGGATACGCTGAACCCCGGCGTCACGTGACGATCGCGGGGCTGCGTACTTGCCAGCATTTCAAGGGCAGAGGGCGGCGGGACGTGACTCGACTAACATCTGGGTGTATTGCTGAAGTTGGAAAAGGGGAAGAAAGAAAGAAAAAGCAGCACAAAACCCACAAGTCCCACGGGTCAAATGGCCGAGAAACGACTCCCAAGGAGTCCAAGTCCAGAAAGGCCCGTACAGTGGCCGGTAAGGGTCAAACATGGCCAGTTCTTCACCCAGGCTAGGAAACGAACGTGAGGGAACGTGACCCTACCAGATGCCCACCCAGCCGGGGATCCCCCTCGTTGCAGTGTCACTTTCGCTGGGCTCTGGGGCAGAACAACTACGCATTTCCAGACTTGGCGAGATCGGGACCTAGTGTCAAAAGAAGGGTAGTGAACCGCCCACTCAGTACGGCGCGGCGCGTACACCAGGTAGGCGAGAAGGGGCGTGGCGCGGCGGCCGCGAAACGTGCGCAGGCGCCGGCCGCTGCGCTGCAGATGGCGGAAATGGATCCGGTAGCCGAGTTCCCCCAGCCTCCCGGTGCTGCGCGCTGGGCTGAGGTTATGGCTCGCTTCGCGGCCAGGCTGGGCGCGCAGGGCCGGCGGGTGGTGTTGGTTACGTCAGGCGGCACCAAGGTCCCACTGGAAGCGCGGCCGGTGCGCTTCCTGGACAACTTCAGCAGCGGGCGGCGCGGTGCAACCTCGGCCGAGGCCTTCCTAGCCGCCGGCTACGGGGTCCTGTTCTTGTATCGCGCTCGCTCTGCCTTCCCCTATGCCCACCGCTTCCCACCCCAGACTTGGCTGTCCGCTCTGCGGCCTTCGGGCCCAGCCCTTTCGGGCTTGCTGAGCCTGGAGGCCGAGGAGAATGCACTTCCGGGTTTTGCTGAGGCTCTGAGGAGCTACCAGGAGGCTGCGGCTGCAGGCACCTTCCTGGCAGTAGAGTTCACCACTTTGGCGGACTATTTGCATCTGTTGCAGGCTGCGGCCCAGGCACTCAATCCGCTAGGTGCGTGCCCTAGGAGTACCCCTTTTGCCTGGAAGCACAGCCTTTCTTTCCAGCCACTTATCCCCTTACCTCCTGCTTACCCACGGATCTCAGCTGGGGAACCCGAGTTGAGAAGGAGCTGATCCTATATCGTACCTCGCCGATTTGTTAACACCTTGTGTTTCTCTTTGCAGGCCCTTCTGCGATGTTTTACCTGGCTGCGGCTGTGTCAGATTTCTATGTTCCTGTCTCTGAAATGCCTGAACACAAGATCCAGTCATCTGGGGGCCCACTGCAGGTGATGGGCGCTTCTCTTCCAGAGATCTAATCCCATATAACCAATCTTGGGTTAATTTCCTCTTGATCTGGAGATGGCCTTTCTGCATCTGTATTCGCTAGGCACAGGGGATACAGAGATGAATAAGACACCGCCCTCCCTCATGGACCTCACAATCTAGTGAGGGAGCTGGACACAGACATAATTACAATACAGAGTGATAAATGCTCTAGTGGAGGTATGTACAAAGTGCAGTCAGATCATGGGGCGAGTGAATCCTGGGGGAGTCGATGAAGCTTCTTGGAGGAGATGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTT
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CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTCTTTACTGATTTGTCTCCCACATTGGAATGTTAGATCTTTGAAGGAACTGATCTACCGAGCTGCCCCAGTAACTTTAGCACCTAAAATAGTGCATAACACAGAGTACGCCTTCAGAAAACATGAGTGACGAATAAGTGGGAGATGAGACAGACGAGGCCACGGGAGTCTTAGGGGCCTGTCTTAAAGCCGTTTTGAGGTGTCCCTTGCAGAGTCAGGGGCAACGGCTAACGCAAGGTACCCAAGCCAGACCCGGGAAAGGGAGAGAGGGAGGGAGTTATAGCGCCCAGGTGCCACGTTTCAGGGCCTACCAGTAATAAGTGACTGTGCAGGCCGCGCACACCCGCTCGGCTGGGGCTTCGCACACCTCACAGCAGAGTCTGCGCCCCTTGGGGACTGCCAGTGGGTAGATCACATTCATGGTGCAGCCAGCAGTGCTGGTCTCTAAGACGGTTGCCCAGCAAGGATACGCTGAACCCCGGCGTCACGTGACGATCGCGGGGCTGCGTACTTGCCAGCATTTCAAGGGCAGAGGGCGGCGGGACGTGACTCGACTAACATCTGGGTGTATTGCTGAAGTTGGAAAAGGGGAAGAAAGAAAGAAAAAGCAGCACAAAACCCACAAGTCCCACGGGTCAAATGGCCGAGAAACGACTCCCAAGGAGTCCAAGTCCAGAAAGGCCCGTACAGTGGCCGGTAAGGGTCAAACATGGCCAGTTCTTCACCCAGGCTAGGAAACGAACGTGAGGGAACGTGACCCTACCAGATGCCCACCCAGCCGGGGATCCCCCTCGTTGCAGTGTCACTTTCGCTGGGCTCTGGGGCAGAACAACTACGCATTTCCAGACTTGGCGAGATCGGGACCTAGTGTCAAAAGAAGGGTAGTGAACCGCCCACTCAGTACGGCGCGGCGCGTACACCAGGTAGGCGAGAAGGGGCGTGGCGCGGCGGCCGCGAAACGTGCGCAGGCGCCGGCCGCTGCGCTGCAGATGGCGGAAATGGATCCGGTAGCCGAGTTCCCCCAGCCTCCCGGTGCTGCGCGCTGGGCTGAGGTTATGGCTCGCTTCGCGGCCAGGCTGGGCGCGCAGGGCCGGCGGGTGGTGTTGGTTACGTCAGGCGGCACCAAGGTCCCACTGGAAGCGCGGCCGGTGCGCTTCCTGGACAACTTCAGCAGCGGGCGGCGCGGTGCAACCTCGGCCGAGGCCTTCCTAGCCGCCGGCTACGGGGTCCTGTTCTTGTATCGCGCTCGCTCTGCCTTCCCCTATGCCCACCGCTTCCCACCCCAGACTTGGCTGTCCGCTCTGCGGCCTTCGGGCCCAGCCCTTTCGGGCTTGCTGAGCCTGGAGGCCGAGGAGAATGCACTTCCGGGTTTTGCTGAGGCTCTGAGGAGCTACCAGGAGGCTGCGGCTGCAGGCACCTTCCTGGCAGTAGAGTTCACCACTTTGGCGGACTATTTGCATCTGTTGCAGGCTGCGGCCCAGGCACTCAATCCGCTAGGTGCGTGCCCTAGGAGTACCCCTTTTGCCTGGAAGCACAGCCTTTCTTTCCAGCCACTTATCCCCTTACCTCCTGCTTACCCACGGATCTCAGCTGGGGAACCCGAGTTGAGAAGGAGCTGATCCTATATCGTACCTCGCCGATTTGTTAACACCTTGTGTTTCTCTTTGCAGGCCCTTCTGCGATGTTTTACCTGGCTGCGCCTGTGTCAGATTTCTATGTTCCTGTCTCTGAAATGCCTGAACACAAGATCCAGTCATCTGGGGGCCCACTGCAGGTGATGGGCGCTTCTCTTCCAGAGATCTAATCCCATATAACCAATCTTGGGTTAATTTCCTCTTGATCTGGAGATGGCCTTTCTGCATCTGTATTCGCTAGGCACAGGGGATACAGAGATGAATAAGACACCGCCCTCCCTCATGGACCTCACAATCTAGTGAGGGAGCTGGACACAGACATAATTACAATACAGAGTGATAAATGCTCTAGTGGAGGTATGTACAAAGTGCAGTCAGATCATGGGGCGAGTGAATCCTGGGGGAGTCGATGAAGCTTCTTGGAGGAGATGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTT
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Task1_train_713
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Chromosome 1 houses a mutation in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACATGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTGGGCTCAAGCGATCCACCCATCCTGGCCTTCCAAAGTGCTGGGATTACAGGCCAAGCCACTGTGTTCCCCTAAGACTTTTTAAACTAAACATTTAACTGAAAAGTTTGATGGTTGAGAAATCCCACTTAAATTTAATTCCTTAGTTTCCCATGAGATTGACCTGGTAGGTAATGACCATTGTTTGCTTATTAAGCTTTTCTTTTTCCAATACAGATAACAATGAAGATGGTGCCAAAACTGCTTTCTCCTTTGGTTAAAGATTGGGCTCCCAAAGCATTTATAATTTCCTTTAAGTTGGAGACTGACCCCGCCATTGTAATTAATCGAGCTCGGAAGGCTTTGGAAATTTATCAGCATCAAGTGGTGGTGGCTAATATCCTTGAGTCACGACAGTCCTTTGTGTTTATTGTAACCAAAGACTCGGAAACCAAGTTATTGCTATCAGAGGAAGAAATAGAAAAAGGCGTAGAGATAGAAGAGAAGATAGTGGATAATCTTCAGTCTCGACACACAGCTTTTATAGGTGACAGAAACTGAAGTAAAAAGCCCTTATAGGATCAAAAATTGTTCAGGGCTCTTAGAGATGGTGAAAACTACAAAAAAAACCATGGCTTTCATATGGACAGATAAAATGAAAGAAAGGGAAAAGGCAGTGGTGTGTAGGCAAATATGGTTTGGCATTTGTCTTTTAATGACACCTGATATGATGTCATTTTGATTTTGAAATTGAACACTAGAACTGTTAATCACCTTTAAAAAGAAGAGCTTATTGGGAATTATATATTCCTTAAAATATACATGGGGGCCTGAATGTCAGCCATCTTTATACTATAGAAAAAGGATTATGGATGCATGAATGGTCATGCTTTGGAGATCAAATATTGGTTGAATGCCTATGTATGTCAGGCCCTGTGCTGAGCCATGAGGATTAAAAAGATGAATAAACATATCTTGTTTAGGAAATGGATGTATAAAAAAATCAAGTGCAATAAAGTGTGTGTCCAAAAGCTGACACAATGGAAAGGATGTTTTGTTTTGTTTGAAATTTATCAAATATAGTAGTAGGAAAGAAGGATACCTCCCTGAAGATAGATTGTAGAATGGTGAGCTTTTCACTGCATTTACTTTTTGCTTCTTATTGTAGATTCACCTCATGTTTGGGTAATAGTTTACATTTCAAGTATTTTAGGACTGCTTTTCAGTTTAACTTAATATGTCCTTCCACCTGGGACCAGGCAGGGGCCACTTGGTGATCTCTGTCCTGAGGGATGCATTACAGTGTGGTAGAGTATGGGCTAGAAGTCAACTTAGCCAGCTGTGCCACCTATTAGCTTTATAAACTTAGGCATTTGACTTAATCTCAGTGTCCACATGCATAAAATGAGGATAATCTCTCTGCAAAGTAATGCCATTTATTGTGAGGATCAAATGAAATAGCAAAAAGAAAGCATCAGTCTGGTGCCTAGCATTTGATTCACACTCACTAAATGGTTGCAATTATTGTTTTTCTCACTTAGCAAAGCAGTGTTACACCACTGCCCTGCTTAATCTTTGAATCCTTGAGAATCTTTGAAAAACTTTCAATACTTCTCTTGCTGTCCTACGTTTTGGGTTTGGAGTGCACAAGTAGCATAGTGCAAAAAAATTCCCTAAATGATCTGTAGGATAGTCCAGGTGCAATTTGAAAAATTAGCATTGATGACTAAGGTAGAAGCAGGTACTGTGTTTCACATAAATATTTGACTTAAAATACAATTCATGGTGTTTCATGGAGTAGGGAAGGGTAGCCCCTGTGTCTGTCTGATAATAGAAGTACAATAAATTTAATTGAGAAGATTTGACAGAAATTCTAAGACTGAAATACTTCATTAATCAGGAAATGTGACCTTGAACAGAGGAAAAATACTGCAGCAGTCAAGACTGTTCTGGAAGCAGCAGTCCCTTTGAACAAAAAAATTTTCTTAGAGACAAGGTCATGCTTAGTCACCCAGGTTGGAGTGCAGTGGTCCAATCATGGTTCACTGTAATCTTGAACTCCTGGACTCAAGCACTCCTACTGCCACAGCCTTCTGAGCAGCTGAGACTACAGGTGTGTGCCACCATGCCTGGCTAAATATTTTATTTTTCATAGAGACAAGGTCTTACTATGTTACCCAGGCTCTTTTTTTTTTTTTTTGAGCGGAGTCTTGCTCTGTCGTCCTGGGTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGAT
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TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACATGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTGGGCTCAAGCGATCCACCCATCCTGGCCTTCCAAAGTGCTGGGATTACAGGCCAAGCCACTGTGTTCCCCTAAGACTTTTTAAACTAAACATTTAACTGAAAAGTTTGATGGTTGAGAAATCCCACTTAAATTTAATTCCTTAGTTTCCCATGAGATTGACCTGGTAGGTAATGACCATTGTTTGCTTATTAAGCTTTTCTTTTTCCAATACAGATAACAATGAAGATGGTGCCAAAACTGCTTTCTCCTTTGGTTAAAGATTGGGCTCCCAAAGCATTTATAATTTCCTTTAAGTTGGTGACTGACCCCGCCATTGTAATTAATCGAGCTCGGAAGGCTTTGGAAATTTATCAGCATCAAGTGGTGGTGGCTAATATCCTTGAGTCACGACAGTCCTTTGTGTTTATTGTAACCAAAGACTCGGAAACCAAGTTATTGCTATCAGAGGAAGAAATAGAAAAAGGCGTAGAGATAGAAGAGAAGATAGTGGATAATCTTCAGTCTCGACACACAGCTTTTATAGGTGACAGAAACTGAAGTAAAAAGCCCTTATAGGATCAAAAATTGTTCAGGGCTCTTAGAGATGGTGAAAACTACAAAAAAAACCATGGCTTTCATATGGACAGATAAAATGAAAGAAAGGGAAAAGGCAGTGGTGTGTAGGCAAATATGGTTTGGCATTTGTCTTTTAATGACACCTGATATGATGTCATTTTGATTTTGAAATTGAACACTAGAACTGTTAATCACCTTTAAAAAGAAGAGCTTATTGGGAATTATATATTCCTTAAAATATACATGGGGGCCTGAATGTCAGCCATCTTTATACTATAGAAAAAGGATTATGGATGCATGAATGGTCATGCTTTGGAGATCAAATATTGGTTGAATGCCTATGTATGTCAGGCCCTGTGCTGAGCCATGAGGATTAAAAAGATGAATAAACATATCTTGTTTAGGAAATGGATGTATAAAAAAATCAAGTGCAATAAAGTGTGTGTCCAAAAGCTGACACAATGGAAAGGATGTTTTGTTTTGTTTGAAATTTATCAAATATAGTAGTAGGAAAGAAGGATACCTCCCTGAAGATAGATTGTAGAATGGTGAGCTTTTCACTGCATTTACTTTTTGCTTCTTATTGTAGATTCACCTCATGTTTGGGTAATAGTTTACATTTCAAGTATTTTAGGACTGCTTTTCAGTTTAACTTAATATGTCCTTCCACCTGGGACCAGGCAGGGGCCACTTGGTGATCTCTGTCCTGAGGGATGCATTACAGTGTGGTAGAGTATGGGCTAGAAGTCAACTTAGCCAGCTGTGCCACCTATTAGCTTTATAAACTTAGGCATTTGACTTAATCTCAGTGTCCACATGCATAAAATGAGGATAATCTCTCTGCAAAGTAATGCCATTTATTGTGAGGATCAAATGAAATAGCAAAAAGAAAGCATCAGTCTGGTGCCTAGCATTTGATTCACACTCACTAAATGGTTGCAATTATTGTTTTTCTCACTTAGCAAAGCAGTGTTACACCACTGCCCTGCTTAATCTTTGAATCCTTGAGAATCTTTGAAAAACTTTCAATACTTCTCTTGCTGTCCTACGTTTTGGGTTTGGAGTGCACAAGTAGCATAGTGCAAAAAAATTCCCTAAATGATCTGTAGGATAGTCCAGGTGCAATTTGAAAAATTAGCATTGATGACTAAGGTAGAAGCAGGTACTGTGTTTCACATAAATATTTGACTTAAAATACAATTCATGGTGTTTCATGGAGTAGGGAAGGGTAGCCCCTGTGTCTGTCTGATAATAGAAGTACAATAAATTTAATTGAGAAGATTTGACAGAAATTCTAAGACTGAAATACTTCATTAATCAGGAAATGTGACCTTGAACAGAGGAAAAATACTGCAGCAGTCAAGACTGTTCTGGAAGCAGCAGTCCCTTTGAACAAAAAAATTTTCTTAGAGACAAGGTCATGCTTAGTCACCCAGGTTGGAGTGCAGTGGTCCAATCATGGTTCACTGTAATCTTGAACTCCTGGACTCAAGCACTCCTACTGCCACAGCCTTCTGAGCAGCTGAGACTACAGGTGTGTGCCACCATGCCTGGCTAAATATTTTATTTTTCATAGAGACAAGGTCTTACTATGTTACCCAGGCTCTTTTTTTTTTTTTTTGAGCGGAGTCTTGCTCTGTCGTCCTGGGTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGAT
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Task1_train_714
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This variant lies on Chromosome 1 and affects the gene CLDN19 (claudin 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Renal hypomagnesemia 5 with ocular involvement
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CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCA
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CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACATGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCA
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Task1_train_715
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Mutation context: Chromosome 1, Gene CLDN19 (claudin 19). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Renal hypomagnesemia 5 with ocular involvement
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AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGT
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AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCGGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGT
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Task1_train_716
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Here is a mutation in CLDN19 (claudin 19) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAA
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CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACTGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAA
|
Task1_train_717
|
Consider a variant on Chromosome 1 in gene CLDN19 (claudin 19). Determine its clinical classification and disease relevance.
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Pathogenic; Renal hypomagnesemia 5 with ocular involvement
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TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAATAGACCCCCAGCCAGGAAACAGCAGGAAGGGCTTTCCGCTTGAAACTGTGTGGT
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TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTCGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAATAGACCCCCAGCCAGGAAACAGCAGGAAGGGCTTTCCGCTTGAAACTGTGTGGT
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Task1_train_718
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Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
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CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGAGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
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Task1_train_719
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This sequence change occurs on Chromosome 1, altering SLC2A1 (solute carrier family 2 member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
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CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGAGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
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Task1_train_720
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A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGG
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GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGTAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGG
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Task1_train_721
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This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
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ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCGCATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
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Task1_train_722
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The following genetic variant occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not specified
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ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
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ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCGCATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
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Task1_train_723
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This mutation is located in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAAC
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CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGTCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAAC
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Task1_train_724
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The gene SLC2A1 (solute carrier family 2 member 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCT
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ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGACAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCT
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Task1_train_725
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This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
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GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGAAGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
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Task1_train_726
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This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
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GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGAAGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
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Task1_train_727
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Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Inborn genetic diseases
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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Task1_train_728
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A sequence alteration has been identified in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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Task1_train_729
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Consider a variant on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1). Determine its clinical classification and disease relevance.
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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Task1_train_730
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This variant affects gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Dystonia 9
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
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Task1_train_731
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The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGT
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ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTTAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGT
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Task1_train_732
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTT
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TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGAGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTT
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Task1_train_733
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This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAG
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AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTGCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAG
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Task1_train_734
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A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCT
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AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGGCACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCT
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Task1_train_735
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Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Dystonia 9
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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Task1_train_736
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A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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Task1_train_737
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A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
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Task1_train_738
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This variant lies on Chromosome 1 and affects the gene SLC2A1 (solute carrier family 2 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAG
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CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGGGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAG
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Task1_train_739
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The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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Task1_train_740
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Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; GLUT1 deficiency syndrome
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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Task1_train_741
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This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
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Task1_train_742
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A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Intellectual disability
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GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGA
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GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGAGGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGA
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Task1_train_743
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A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAA
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ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGTCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAA
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Task1_train_744
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A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
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TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTC
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TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCCGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTC
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Task1_train_745
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Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAA
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AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCGGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAA
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Task1_train_746
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This alteration occurs within gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
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CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGTGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
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Task1_train_747
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A genetic alteration is present in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
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CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGTGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
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Task1_train_748
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hereditary cryohydrocytosis with reduced stomatin
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_749
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The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_750
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Dystonia 9
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_751
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Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_752
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Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_753
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The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_754
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The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
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Task1_train_755
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This genomic variant is located on Chromosome 1, within the SLC2A1 (solute carrier family 2 member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
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ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCAGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
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Task1_train_756
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Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
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ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCAGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
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Task1_train_757
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTT
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TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCTTGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTT
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Task1_train_758
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A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Dystonia 9
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AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAA
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AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGACGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAA
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Task1_train_759
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Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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Task1_train_760
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The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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Task1_train_761
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This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
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Task1_train_762
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A variant found in Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCA
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TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACAAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCA
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Task1_train_763
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Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTAT
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ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTTACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTAT
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Task1_train_764
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A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCAGGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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Task1_train_765
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This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCATGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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Task1_train_766
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A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCATGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
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Task1_train_767
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A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACAGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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Task1_train_768
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Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACGGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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Task1_train_769
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Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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Task1_train_770
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With a mutation on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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Task1_train_771
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Given this context: Chromosome 1, gene SLC2A1 (solute carrier family 2 member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; GLUT1 deficiency syndrome
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
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Task1_train_772
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A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCC
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CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGAGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCC
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Task1_train_773
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This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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Task1_train_774
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Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Seizure
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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Task1_train_775
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Located on Chromosome 1, this mutation impacts SLC2A1 (solute carrier family 2 member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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Task1_train_776
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; SLC2A1-related disorder
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
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Task1_train_777
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Mutation context: Chromosome 1, Gene SLC2A1 (solute carrier family 2 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACA
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GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGTCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACA
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Task1_train_778
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A variant was discovered on Chromosome 1, affecting SLC2A1 (solute carrier family 2 member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACATTAGCAGGAGCTGCTTCACAGTGCTGCAGGGAATCAGTGAAACAGTGCTTGGTGTC
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GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGACAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACATTAGCAGGAGCTGCTTCACAGTGCTGCAGGGAATCAGTGAAACAGTGCTTGGTGTC
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Task1_train_779
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A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCAATGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_780
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_781
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The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_782
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A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Dystonia 9
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_783
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Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_784
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A variant was discovered in gene SLC2A1 (solute carrier family 2 member 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_785
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Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_786
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Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hereditary cryohydrocytosis with reduced stomatin
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
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Task1_train_787
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This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; SLC2A1-related disorder
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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Task1_train_788
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This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Encephalopathy due to GLUT1 deficiency
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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Task1_train_789
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A change on Chromosome 1 affects gene SLC2A1 (solute carrier family 2 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
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Task1_train_790
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Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
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AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCAAGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
|
Task1_train_791
|
A sequence alteration has been identified in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it disease-inducing or harmless?
|
Pathogenic; Encephalopathy due to GLUT1 deficiency
|
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
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AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCACGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
|
Task1_train_792
|
An alteration has been detected in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Dystonia 9
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AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
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AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCACGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
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Task1_train_793
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This alteration occurs within gene TIE1 (tyrosine kinase with immunoglobulin like and EGF like domains 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Lymphatic malformation 11
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CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCTAAGGCCTCCTTCGCCTTCTCCAGCTTCTCCAGCACCCTAAGTCTTAACCATTCACACCCCTGCCACCCCCTGACCCTGCTGTCCCTCTGCTCCTGCCACCCCATGTAAGCCCCCTCTCTCACCTTCTGCTTTCTCGTTGCCACACTCTGCCTCCCAGGTCCTCGCCATCTCCCTATCCCGTGACTATGCATGACTCTCTGCCATCAAGCCTCACCTTCCGCCTTTCTCTTCTCACTGTGCCCAGGCTTAGGAGCCAGACAACCTGGGCTTGAATCCTCTCTCCACAAATTCCTTGCCCCATCACCTTAAGGAAACTACTTAACCTCTCTTACTTTGTTTCTCTCTTTGTGAAATGGGGATAGCTAGCACTTGATGGGGTTGTTACAAAGATTAAATTTGATGATGTATTTAAGCATTTAGCACAGTGCCCGATACAGGGTGTGTGCTCAATGTATGTCGATAATTATTGTTATTATTTAAAATGTCACCTAGTCCCTAGATTTTGATAGTTCTCTGGCAGCTCTCACATATGATCTGCAGCCAGGACCCCTCTTCTGACTCCAGATCATTTGGTGGGGACTCCATGAAGTGGGGCATCTACTCTGGAAGTCTGGTTTTGAAGTTGGTGTGGAAAGTAGCTGCTGTATGATTCGGAGGCCCATTTTATATCCAGCCACTTCCTGGACATCTAATCCCCTGCGTGAGCCAAAGGCACCAAGGGCTTCTCTGCACCCAAAATGGACCTTCATCTCCCCGCAAATCAGCACTGCCCTCCTGACATGCTCATTGCTGCCTGACACTCCCTCAGCTTACAGCGCGGCATCCTTTTCCTCCCTCGCTCCCTCCCTCTTTCCTTCCTTCCTTTCCTCTCAAAAAGCCAATCTGGTAAACATTTGTAAGAGTCAAGGGAACCTGTTAAAAGCACTAATGCAATAATCTGGAGAGAAAAAGTTGAGGCCAGAATAGGAGCAGCGATCATGGGGTGAGGAAGTGGGGCAGGAACAAGAAGGCTGTTTTGGAGTAGAATGGATAGATCTGAGGCGGCCTGCGCAGACAGACCTAGTTCAACACATGGCTGTATCTCCTTCTAGTTGTGTGTCCTTAGGCAAGTTATTCGGTGTCTCTGAGTCTCAGTGTTTTCATAATGCAGGGTAATGTGCCCTGACAGAAAGGTGGCTGTGAGAATTAGAGGTCATGCTATGAAGCGTGTGGCGGGGAGCAGGTGCTTCAGTGCCAGTGCCATTTTTTTTTTTTAATAAGAGAGTGGTGAATGAGGGCAGGGGCAGAGAGCAGGATGATGCCCAGGTAGTCTCCCTGACCTGGGTTTCGGCCCCTTCTGTCTACCCCCACACTGCATGGGAAGAGTGCACCCCCAAACCATGTCTGGCCATGTCACTTCCTCATCTACCATCTTTTGGGACACCCTCATGCCTTTATTGCTTAATCCTTGTGCCCCAAGCTACCCAGGGGCCTGAACTCTGTCCTCCCTGGGCCCTGGCCACTATGGTCATCTGTTGAACTTGGTGTCCCTCAAGCCCAGAGGGTCCCCAGCTTGAAACAAAGATGCAGAAGTGGACTGGATAGGCTGTGTGCCCATGCCTTACCCTGAGTCTCCTGGCAGTGCCCCCCGTGCCCCTGGCTGCACCTCGGCTCCTGACCAAGCAGAGCCGCCAGCTTGTGGTCTCCCCGCTGGTCTCGTTCTCTGGGGATGGACCCATCTCCACTGTCCGCCTGCACTACCGGCCCCAGGACAGTACCATGGACTGGTCGACCATTGTGGGTGAGTAGGGAGAGAGCTGGGGCAGGACAGAGGTGTTGGGTAATAGTGAAGGGATACAGTGAGCAGGAGAGGGAGGGCAAATGGTGCGAGGGGGCTGAAGGGAGCATGGCAGCTTCTAGAAGAGGTGGGGGCTGAATAATGTGTGCTTTACACCCCACGCCCAGTGGACCCCAGTGAGAACGTGACGTTAATGAACCTGAGGCCAAAGACAGGATACAGTGTTCGTGTGCAGCTGAGCCGGCCAGGGGAAGGAGGAGAGGGGGCCTGGGGGCCTCCCACCCTCATGACCACAGACTGTCCTGGTGAGAGGCCAAGAGTCATCCCTTCCTGTCCCCCCAAGGGTTACTTTCCCGTCGACCCCAGGGACCCCTGCCTTTCCCACTGGAGGTTGTTCTTCCTTGTTCACTGGGGATCATTGTCCTGTCCAGCCCCAAGTACCTACTGGACAGTTCTGACCCCTGACCTCTGGCCCCAGAGCCTTTGTTGCAGCCGTGGTTGGAGGGCTGGCATGTGGAAGGCACTGACCGGCTGCGAGTGAGCTGGTCCTTGCCCTTGGTGCCCGGGCCACTGGTGGGCGACGGTTTCCTGCTGCGCCTGTGGGACGGGACACGGGGGCAGGAGCGGCGGGAGAACGTCTCATCCCCCCAGGCCCGCACTGCCCTCCTGACGGGACTCACGCCTGGCACCCACTACCAGCTGGATGTGCAGCTCTACCACTGCACCCTCCTGGGCCCGGCCTCGCCCCCTGCACACGTGCTTCTGCCCCCCAGTGGTATGTGCAAGGCGCAAGGATAGCTGGGGGTTGGGGGAGGACGTGGGACACAGGGACACATGAGACCTAGGAGACACGGGAGGCTGTAGGAGATTAATGGACATGGAGAGGACACAGGACACACATAGGGTATTAGGCAGACGTGACCCCAGCGGGGACATGGGACTTGGGGAAGATCCAGGGTACCAGGAGGACACAGATCACCAGGAGCATGTGGGGAGAGCATGGGGAGGTCAGGGTTCATGGCGAGAACCAGGGTCATGGGAGGGCATGAGACTTGCGGAACACAGGGCATGGGCGGATGTGGAGAGGACTTGGGATACAAGAAGTACAAGGAGAAGCAGAAGCTTGAGGGTGAAAGTGGCCTGGGGGAATGGAGAGGAATTCAGTCTGGTGGGGAGGAGGAAGTTGGCAGGGTGGCCCCTGTGCTTGGACCCACAGAGGAGGGAGCACAGCTAGAGCAGATGTGTCCAGCCCCACAGCTACATAGCCCGGTCCTATCTGAGCCTTGCCTTCCCCCACCATCTCCCCAGGGCCTCCAGCCCCCCGACACCTCCACGCCCAGGCCCTCTCAGACTCCGAGATCCAGCTGACATGGAAGCACCCGGAGGCTCTGCCTGGGCCAATATCCAAGTACGTTGTGGAGGTGCAGGTGGCTGGGGGTGCAGGAGACCCACTGTGGATAGACGTGGACAGGCCTGAGGAGACAAGCACCATCATCCGTGGCCTCAACGCCAGCACGCGCTACCTCTTCCGCATGCGGGCCAGCATTCAGGGGCTCGGGGACTGGAGCAACACAGTAGAAGAGTCCACCCTGGGCAACGGTGAGAGGGCAGGGCCCACAGGACCCCCCGGGCTCTGAGCGGGGAGAGCTCAGCACGCTCTCCTTCCACATCACCCCCTACTGTGGAGCTAGGGCATCCCAGGCCCCTCCTGACAAAGAGTCAGCCCCAGTCCTGGGGACTCAGCCTTCCATTCTCATGATCCACTGTCCCAGGGCTGGGAAAATCATGTCGCCCCTCTGACACCCCTCATCCCTTCCTTCATGTGGCCCAAGTGATTTCCTGACAGTCCTGGCACTGGGATCTTTCACCTCTCCCTCTGTGTAACCCCATGGTGGCCTCTGGGTTCCCTGACCCAGGTGTCCCCACAATCTGCCCCTCTCACTGTGTCCAGGGCTGCAGGCTGAGGGCCCAGTCCAAGAGAGCCGGGCAGCTGAAGAGG
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CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCTAAGGCCTCCTTCGCCTTCTCCAGCTTCTCCAGCACCCTAAGTCTTAACCATTCACACCCCTGCCACCCCCTGACCCTGCTGTCCCTCTGCTCCTGCCACCCCATGTAAGCCCCCTCTCTCACCTTCTGCTTTCTCGTTGCCACACTCTGCCTCCCAGGTCCTCGCCATCTCCCTATCCCGTGACTATGCATGACTCTCTGCCATCAAGCCTCACCTTCCGCCTTTCTCTTCTCACTGTGCCCAGGCTTAGGAGCCAGACAACCTGGGCTTGAATCCTCTCTCCACAAATTCCTTGCCCCATCACCTTAAGGAAACTACTTAACCTCTCTTACTTTGTTTCTCTCTTTGTGAAATGGGGATAGCTAGCACTTGATGGGGTTGTTACAAAGATTAAATTTGATGATGTATTTAAGCATTTAGCACAGTGCCCGATACAGGGTGTGTGCTCAATGTATGTCGATAATTATTGTTATTATTTAAAATGTCACCTAGTCCCTAGATTTTGATAGTTCTCTGGCAGCTCTCACATATGATCTGCAGCCAGGACCCCTCTTCTGACTCCAGATCATTTGGTGGGGACTCCATGAAGTGGGGCATCTACTCTGGAAGTCTGGTTTTGAAGTTGGTGTGGAAAGTAGCTGCTGTATGATTCGGAGGCCCATTTTATATCCAGCCACTTCCTGGACATCTAATCCCCTGCGTGAGCCAAAGGCACCAAGGGCTTCTCTGCACCCAAAATGGACCTTCATCTCCCCGCAAATCAGCACTGCCCTCCTGACATGCTCATTGCTGCCTGACACTCCCTCAGCTTACAGCGCGGCATCCTTTTCCTCCCTCGCTCCCTCCCTCTTTCCTTCCTTCCTTTCCTCTCAAAAAGCCAATCTGGTAAACATTTGTAAGAGTCAAGGGAACCTGTTAAAAGCACTAATGCAATAATCTGGAGAGAAAAAGTTGAGGCCAGAATAGGAGCAGCGATCATGGGGTGAGGAAGTGGGGCAGGAACAAGAAGGCTGTTTTGGAGTAGAATGGATAGATCTGAGGCGGCCTGCGCAGACAGACCTAGTTCAACACATGGCTGTATCTCCTTCTAGTTGTGTGTCCTTAGGCAAGTTATTCGGTGTCTCTGAGTCTCAGTGTTTTCATAATGCAGGGTAATGTGCCCTGACAGAAAGGTGGCTGTGAGAATTAGAGGTCATGCTATGAAGCGTGTGGCGGGGAGCAGGTGCTTCAGTGCCAGTGCCATTTTTTTTTTTTAATAAGAGAGTGGTGAATGAGGGCAGGGGCAGAGAGCAGGATGATGCCCAGGTAGTCTCCCTGACCTGGGTTTCGGCCCCTTCTGTCTACCCCCACACTGCATGGGAAGAGTGCACCCCCAAACCATGTCTGGCCATGTCACTTCCTCATCTACCATCTTTTGGGACACCCTCATGCCTTTATTGCTTAATCCTTGTGCCCCAAGCTACCCAGGGGCCTGAACTCTGTCCTCCCTGGGCCCTGGCCACTATGGTCATCTGTTGAACTTGGTGTCCCTCAAGCCCAGAGGGTCCCCAGCTTGAAACAAAGATGCAGAAGTGGACTGGATAGGCTGTGTGCCCATGCCTTACCCTGAGTCTCCTGGCAGTGCCCCCCGTGCCCCTGGCTGCACCTCGGCTCCTGACCAAGCAGAGCCGCCAGCTTGTGGTCTCCCCGCTGGTCTCGTTCTCTGGGGATGGACCCATCTCCACTGTCTGCCTGCACTACCGGCCCCAGGACAGTACCATGGACTGGTCGACCATTGTGGGTGAGTAGGGAGAGAGCTGGGGCAGGACAGAGGTGTTGGGTAATAGTGAAGGGATACAGTGAGCAGGAGAGGGAGGGCAAATGGTGCGAGGGGGCTGAAGGGAGCATGGCAGCTTCTAGAAGAGGTGGGGGCTGAATAATGTGTGCTTTACACCCCACGCCCAGTGGACCCCAGTGAGAACGTGACGTTAATGAACCTGAGGCCAAAGACAGGATACAGTGTTCGTGTGCAGCTGAGCCGGCCAGGGGAAGGAGGAGAGGGGGCCTGGGGGCCTCCCACCCTCATGACCACAGACTGTCCTGGTGAGAGGCCAAGAGTCATCCCTTCCTGTCCCCCCAAGGGTTACTTTCCCGTCGACCCCAGGGACCCCTGCCTTTCCCACTGGAGGTTGTTCTTCCTTGTTCACTGGGGATCATTGTCCTGTCCAGCCCCAAGTACCTACTGGACAGTTCTGACCCCTGACCTCTGGCCCCAGAGCCTTTGTTGCAGCCGTGGTTGGAGGGCTGGCATGTGGAAGGCACTGACCGGCTGCGAGTGAGCTGGTCCTTGCCCTTGGTGCCCGGGCCACTGGTGGGCGACGGTTTCCTGCTGCGCCTGTGGGACGGGACACGGGGGCAGGAGCGGCGGGAGAACGTCTCATCCCCCCAGGCCCGCACTGCCCTCCTGACGGGACTCACGCCTGGCACCCACTACCAGCTGGATGTGCAGCTCTACCACTGCACCCTCCTGGGCCCGGCCTCGCCCCCTGCACACGTGCTTCTGCCCCCCAGTGGTATGTGCAAGGCGCAAGGATAGCTGGGGGTTGGGGGAGGACGTGGGACACAGGGACACATGAGACCTAGGAGACACGGGAGGCTGTAGGAGATTAATGGACATGGAGAGGACACAGGACACACATAGGGTATTAGGCAGACGTGACCCCAGCGGGGACATGGGACTTGGGGAAGATCCAGGGTACCAGGAGGACACAGATCACCAGGAGCATGTGGGGAGAGCATGGGGAGGTCAGGGTTCATGGCGAGAACCAGGGTCATGGGAGGGCATGAGACTTGCGGAACACAGGGCATGGGCGGATGTGGAGAGGACTTGGGATACAAGAAGTACAAGGAGAAGCAGAAGCTTGAGGGTGAAAGTGGCCTGGGGGAATGGAGAGGAATTCAGTCTGGTGGGGAGGAGGAAGTTGGCAGGGTGGCCCCTGTGCTTGGACCCACAGAGGAGGGAGCACAGCTAGAGCAGATGTGTCCAGCCCCACAGCTACATAGCCCGGTCCTATCTGAGCCTTGCCTTCCCCCACCATCTCCCCAGGGCCTCCAGCCCCCCGACACCTCCACGCCCAGGCCCTCTCAGACTCCGAGATCCAGCTGACATGGAAGCACCCGGAGGCTCTGCCTGGGCCAATATCCAAGTACGTTGTGGAGGTGCAGGTGGCTGGGGGTGCAGGAGACCCACTGTGGATAGACGTGGACAGGCCTGAGGAGACAAGCACCATCATCCGTGGCCTCAACGCCAGCACGCGCTACCTCTTCCGCATGCGGGCCAGCATTCAGGGGCTCGGGGACTGGAGCAACACAGTAGAAGAGTCCACCCTGGGCAACGGTGAGAGGGCAGGGCCCACAGGACCCCCCGGGCTCTGAGCGGGGAGAGCTCAGCACGCTCTCCTTCCACATCACCCCCTACTGTGGAGCTAGGGCATCCCAGGCCCCTCCTGACAAAGAGTCAGCCCCAGTCCTGGGGACTCAGCCTTCCATTCTCATGATCCACTGTCCCAGGGCTGGGAAAATCATGTCGCCCCTCTGACACCCCTCATCCCTTCCTTCATGTGGCCCAAGTGATTTCCTGACAGTCCTGGCACTGGGATCTTTCACCTCTCCCTCTGTGTAACCCCATGGTGGCCTCTGGGTTCCCTGACCCAGGTGTCCCCACAATCTGCCCCTCTCACTGTGTCCAGGGCTGCAGGCTGAGGGCCCAGTCCAAGAGAGCCGGGCAGCTGAAGAGG
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Task1_train_794
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This variant affects the gene LOC126805720, TIE1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813| tyrosine kinase with immunoglobulin like and EGF like domains 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Lymphatic malformation 11
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GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACACTCCTCCTGTCTCTCCAGGGATGTCCATCTTGATCTGAACCTACCCCTTGCCCCAAGCCCTTTGGCCTTGCCTGCATGGCTCACTGCTTACCACACTGATCACTCCTCTGACCACTACATGCCTACTTCGTGCTTCTGCCCCAACACTCCCTTGATTCCCTCCACCCCCTTTGAACTCTCTCCCCTGGTCTCAGGGCTGATGCACACTACACAGAGGCTGTTAAAGTGTGAGATGCAGTCAAGAGTAAGAGCTTTGGAGCCTGAGTTGGAACGCTTGCTCTGCCACTAACTAGCTGTATGGCCTTGGGCAATCTAGCTAACCTCTCAGTGCCTCAGTGTCTTCATCTGTAAAATGGCAAGACTAATAGAACCTGTATCATAGGGTTGGTGTGAGGGTTAAATGAATTAACATGTCTGTTAAATGACCAGGGCCTGGACCACGGTAAGTGCTCAATAAAAATGTTAGCTCGGCTGGCTGTGGTGGCCCACATGTGTAATCCCAGCACTTTGGGAGGCCAGGCAGGCAAATCACTGGAGACCAGGAGTTTGAGACCAGCCTGGGCAAGATGGCAAGACCCTGTCTCTACTAAAAATACAAAACATGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCTCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAAAATACAAAACATTAGCTGAGCATGGTGGCACACACCAGCTACAAGGGAGACTGAGGTGGGAGGACCACCTGATCCTGGGAGGTTGAGGCTGCAGTAAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAGAGCTCTAATTGTGCTGAGCCCAGGGATGGGGGCAGTATGAAGGAGCTTCATTGGCGCAGAGACAACAGCTGGCCAAGGCCAGATACTTACAGAGTAGACACATACAGCGGGGCTGGGAGGCACTGCACATCTTGGGCAGGTAGAAGCTAAACTGCTAGGGACCAGGGCCTAGAAGGTAACTAAGTGCATCCTTCTTATTTCAGCTGGTCCTTTGGAGTCCTTCTTTGGGAGATAGTGAGCCTTGGTGAGTTCCTGATCCCCGTCCCCCAGAGTGCCCCACCTTACCCCACGTGGAGCCCTGGACCGAGAGCACTTTGTCCCCTCCTGCAGGAGGTACACCCTACTGTGGCATGACCTGTGCCGAGCTCTATGAAAAGCTGCCCCAGGGCTACCGCATGGAGCAGCCTCGAAACTGTGACGATGAAGTGTGAGTCACCCCATCCTTGAGCTCCATGATCCTATCTCTGTGATGAGTGACCTCAGCTTTGATCCCTGTGACCCCATCACCCCAGCTGGCCTGACTCCTCATCTCAGCAATGCCCCCTCGCAGGTACGAGCTGATGCGTCAGTGCTGGCGGGACCGTCCCTATGAGCGACCCCCCTTTGCCCAGATTGCGCTACAGCTAGGCCGCATGCTGGAAGCCAGGAAGGTGAGGAGACTGGGGCTGAGGTGGCGGGCTGGGCTCACAGAGTGCTCCAGAGTGCCCTCTCAGAGGTGCCATGACCCCTGTCCCAACCACACTGCCTGCCCAACCTCCCTCAGTGGGGGCTGTCACCACGGCTAGGCTGGGCCCCAGGATGCAGCCTGCCTTTCCAGCCCTCACTGGTTTAGACACCAGGCCCTTCCAAAACTCTTCCAAGGCCACTGCTTAGCCCCAACAGCAAATCCCTACCTTAAGCCCCAAGTCCCAGACTGCTTGCCTGTCCTCTGCTGAGGCCATCAGCCTGTCCTCATCTGGGACACCTCTCCCCACCTGCCAGAGCCAGAGCAGAGTGCATGAATAGTCACTAACCAGATGGATGGATGGGTGAATGAGTGATACAGTAACCGTATGAATGAATGAATGGAATTAGTGGATAGATGATACAATAATCATATGAACATGTAATTCAATAACTCAATCTACTAACCATGTGAATAAGTGAATTATCAAATAAATATAATGAAAAATATATCAAAATTAGTAAATATGAAGAGTTCTTCAAGTAAATTAATGATTAAATAACCATCTTAAGAATGAAGGAATGATCAAATAACCATATAAATGGATGAGTCGTCTAAAATGGCTTTTGAACAGATAAGTTACTGAATGAATGAACGCATAAGCCAAGAATTCATTGAAAGAGTGCATGTAAAAACCCTCCTCTAACAATGGCATTGAGAGCCTCTCACCTGAGGCCCCAACTGTGGCCTGATGCCTTCACTGCCCTGGGCTGGTAAAGGCCACTCTTGGCCATGGGGCCATCTTAGGTCTCCAGAACAAATCAGTGTCAGTTCAAATGCCCCCACCACATGGAAGTCCAGGAGCTTGAGGCCAGATGCACCCCCATTCCTGGCCCCCACTAAAGCTTGCTCTGCCCCCAGGCCTATGTGAACATGTCGCTGTTTGAGAACTTCACTTACGCGGGCATTGATGCCACAGCTGAGGAGGCCTGAGCTGCCATCCAGCCAGAACGTGGCTCTGCTGGCCGGAGCAAACTCTGCTGTCTAACCTGTGACCAGTCTGACCCTTACAGCCTCTGACTTAAGCTGCCTCAAGGAATTTTTTTAACTTAAGGGAGAAAAAAAGGGATCTGGGGATGGGGTGGGCTTAGGGGAACTGGGTTCCCATGCTTTGTAGGTGTCTCATAGCTATCCTGGGCATCCTTCTTTCTAGTTCAGCTGCCCCACAGGTGTGTTTCCCATCCCACTGCTCCCCCAACACAAACCCCCACTCCAGCTCCTTCGCTTAAGCCAGCACTCACACCACTAACATGCCCTGTTCAGCTACTCCCACTCCCGGCCTGTCATTCAGAAAAAAATAAATGTTCTAATAAGCTCCATTCAATGTCTACCTTTTACTGCTGGTCAATCTTGGGGTGAGGGGCGTAGTTAAACCCAAGAGACAGAAACTGGCCGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGCTTGAGACCATCCTGGCGAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGAAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAGACAGAAACTGGGCTTTCTAGGAAAAGAAACACTGTCTGAGGCCTCAGCCCTCTGTTGAGGTTGCCTGTCCAGGATAGGAGGTGCTCTGGAAGACTCATTTTACACAAACACCACCAGCCCCTACCTCTGTCCTGATTAGAAGGCCAGTTTTCCCCTGTTCCCTTCCCTGCTCTCCAGCTTCCATCACTAACGTGTCTCCCTGTGTATCTCTAGGTAGCAGCCAGCCTAGGATTCTTTGTTCTGTCCAAATAGTCCATGCCAGGATCATCTA
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GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACACTCCTCCTGTCTCTCCAGGGATGTCCATCTTGATCTGAACCTACCCCTTGCCCCAAGCCCTTTGGCCTTGCCTGCATGGCTCACTGCTTACCACACTGATCACTCCTCTGACCACTACATGCCTACTTCGTGCTTCTGCCCCAACACTCCCTTGATTCCCTCCACCCCCTTTGAACTCTCTCCCCTGGTCTCAGGGCTGATGCACACTACACAGAGGCTGTTAAAGTGTGAGATGCAGTCAAGAGTAAGAGCTTTGGAGCCTGAGTTGGAACGCTTGCTCTGCCACTAACTAGCTGTATGGCCTTGGGCAATCTAGCTAACCTCTCAGTGCCTCAGTGTCTTCATCTGTAAAATGGCAAGACTAATAGAACCTGTATCATAGGGTTGGTGTGAGGGTTAAATGAATTAACATGTCTGTTAAATGACCAGGGCCTGGACCACGGTAAGTGCTCAATAAAAATGTTAGCTCGGCTGGCTGTGGTGGCCCACATGTGTAATCCCAGCACTTTGGGAGGCCAGGCAGGCAAATCACTGGAGACCAGGAGTTTGAGACCAGCCTGGGCAAGATGGCAAGACCCTGTCTCTACTAAAAATACAAAACATGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCTCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAAAATACAAAACATTAGCTGAGCATGGTGGCACACACCAGCTACAAGGGAGACTGAGGTGGGAGGACCACCTGATCCTGGGAGGTTGAGGCTGCAGTAAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAGAGCTCTAATTGTGCTGAGCCCAGGGATGGGGGCAGTATGAAGGAGCTTCATTGGCGCAGAGACAACAGCTGGCCAAGGCCAGATACTTACAGAGTAGACACATACAGCGGGGCTGGGAGGCACTGCACATCTTGGGCAGGTAGAAGCTAAACTGCTAGGGACCAGGGCCTAGAAGGTAACTAAGTGCATCCTTCTTATTTCAGCTGGTCCTTTGGAGTCCTTCTTTGGGAGATAGTGAGCCTTGGTGAGTTCCTGATCCCCGTCCCCCAGAGTGCCCCACCTTACCCCACGTGGAGCCCTGGACCGAGAGCACTTTGTCCCCTCCTGCAGGAGGTACACCCTACTGTGGCATGACCTGTGCCGAGCTCTATGAAAAGCTGCCCCAGGGCTACCGCATGGAGCAGCCTCGAAACTGTGACGATGAAGTGTGAGTCACCCCATCCTTGAGCTCCATGATCCTATCTCTGTGATGAGTGACCTCAGCTTTGATCCCTGTGACCCCATCACCCCAGCTGGCCTGACTCCTCATCTCAGCAATGCCCCCTCGCAGGTACGAGCTGATGCGTCAGTGCTGGCGGGACCGTCCCTATGAGCGACCCCCCTTTGCCCAGATTGCGCTACAGCTAGGCCACATGCTGGAAGCCAGGAAGGTGAGGAGACTGGGGCTGAGGTGGCGGGCTGGGCTCACAGAGTGCTCCAGAGTGCCCTCTCAGAGGTGCCATGACCCCTGTCCCAACCACACTGCCTGCCCAACCTCCCTCAGTGGGGGCTGTCACCACGGCTAGGCTGGGCCCCAGGATGCAGCCTGCCTTTCCAGCCCTCACTGGTTTAGACACCAGGCCCTTCCAAAACTCTTCCAAGGCCACTGCTTAGCCCCAACAGCAAATCCCTACCTTAAGCCCCAAGTCCCAGACTGCTTGCCTGTCCTCTGCTGAGGCCATCAGCCTGTCCTCATCTGGGACACCTCTCCCCACCTGCCAGAGCCAGAGCAGAGTGCATGAATAGTCACTAACCAGATGGATGGATGGGTGAATGAGTGATACAGTAACCGTATGAATGAATGAATGGAATTAGTGGATAGATGATACAATAATCATATGAACATGTAATTCAATAACTCAATCTACTAACCATGTGAATAAGTGAATTATCAAATAAATATAATGAAAAATATATCAAAATTAGTAAATATGAAGAGTTCTTCAAGTAAATTAATGATTAAATAACCATCTTAAGAATGAAGGAATGATCAAATAACCATATAAATGGATGAGTCGTCTAAAATGGCTTTTGAACAGATAAGTTACTGAATGAATGAACGCATAAGCCAAGAATTCATTGAAAGAGTGCATGTAAAAACCCTCCTCTAACAATGGCATTGAGAGCCTCTCACCTGAGGCCCCAACTGTGGCCTGATGCCTTCACTGCCCTGGGCTGGTAAAGGCCACTCTTGGCCATGGGGCCATCTTAGGTCTCCAGAACAAATCAGTGTCAGTTCAAATGCCCCCACCACATGGAAGTCCAGGAGCTTGAGGCCAGATGCACCCCCATTCCTGGCCCCCACTAAAGCTTGCTCTGCCCCCAGGCCTATGTGAACATGTCGCTGTTTGAGAACTTCACTTACGCGGGCATTGATGCCACAGCTGAGGAGGCCTGAGCTGCCATCCAGCCAGAACGTGGCTCTGCTGGCCGGAGCAAACTCTGCTGTCTAACCTGTGACCAGTCTGACCCTTACAGCCTCTGACTTAAGCTGCCTCAAGGAATTTTTTTAACTTAAGGGAGAAAAAAAGGGATCTGGGGATGGGGTGGGCTTAGGGGAACTGGGTTCCCATGCTTTGTAGGTGTCTCATAGCTATCCTGGGCATCCTTCTTTCTAGTTCAGCTGCCCCACAGGTGTGTTTCCCATCCCACTGCTCCCCCAACACAAACCCCCACTCCAGCTCCTTCGCTTAAGCCAGCACTCACACCACTAACATGCCCTGTTCAGCTACTCCCACTCCCGGCCTGTCATTCAGAAAAAAATAAATGTTCTAATAAGCTCCATTCAATGTCTACCTTTTACTGCTGGTCAATCTTGGGGTGAGGGGCGTAGTTAAACCCAAGAGACAGAAACTGGCCGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGCTTGAGACCATCCTGGCGAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGAAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAGACAGAAACTGGGCTTTCTAGGAAAAGAAACACTGTCTGAGGCCTCAGCCCTCTGTTGAGGTTGCCTGTCCAGGATAGGAGGTGCTCTGGAAGACTCATTTTACACAAACACCACCAGCCCCTACCTCTGTCCTGATTAGAAGGCCAGTTTTCCCCTGTTCCCTTCCCTGCTCTCCAGCTTCCATCACTAACGTGTCTCCCTGTGTATCTCTAGGTAGCAGCCAGCCTAGGATTCTTTGTTCTGTCCAAATAGTCCATGCCAGGATCATCTA
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Task1_train_795
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Given this context: Chromosome 1, gene MPL (MPL proto-oncogene, thrombopoietin receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Congenital amegakaryocytic thrombocytopenia
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GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAG
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GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCCACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAG
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Task1_train_796
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A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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Task1_train_797
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A mutation on Chromosome 1 affecting MPL (MPL proto-oncogene, thrombopoietin receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Congenital amegakaryocytic thrombocytopenia
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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Task1_train_798
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Chromosome 1 houses a mutation in gene MPL (MPL proto-oncogene, thrombopoietin receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Essential thrombocythemia
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
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Task1_train_799
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This sequence variant lies in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Subsets and Splits
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