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_15000 | A variant has been detected on Chromosome 11 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiac arrhythmia | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... |
Task1_train_15001 | A variant has been detected on Chromosome 11 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Long QT syndrome | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... |
Task1_train_15002 | A variant affecting Chromosome 11, within the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Long QT syndrome 1 | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... |
Task1_train_15003 | This sequence variant lies in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... | CGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCC... |
Task1_train_15004 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiovascular phenotype | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... |
Task1_train_15005 | This variant lies on Chromosome 11 and affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Long QT syndrome | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... |
Task1_train_15006 | A mutation on Chromosome 11 affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiac arrhythmia | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... |
Task1_train_15007 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Jervell and Lange-Nielsen syndrome 1 | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... |
Task1_train_15008 | Assess the clinical impact of this variant on gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Long QT syndrome 1 | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... | AAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGG... |
Task1_train_15009 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATT... | TGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATT... |
Task1_train_15010 | The gene CDKN1C (cyclin dependent kinase inhibitor 1C) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Beckwith-Wiedemann syndrome | CTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCG... | CTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCG... |
Task1_train_15011 | With a mutation on Chromosome 11 in gene CDKN1C (cyclin dependent kinase inhibitor 1C), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Beckwith-Wiedemann syndrome | CCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTT... | CCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTT... |
Task1_train_15012 | Here is a genetic alteration in CDKN1C (cyclin dependent kinase inhibitor 1C) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; IMAGe syndrome | CCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTT... | CCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTT... |
Task1_train_15013 | A variant on Chromosome 11 in gene CDKN1C (cyclin dependent kinase inhibitor 1C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; IMAGe syndrome | TTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCT... | TTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCT... |
Task1_train_15014 | This variant lies on Chromosome 11 and affects the gene CDKN1C (cyclin dependent kinase inhibitor 1C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; IMAGe syndrome | AGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCTATTTTA... | AGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCTATTTTA... |
Task1_train_15015 | Given a variant located on Chromosome 11 and affecting CDKN1C (cyclin dependent kinase inhibitor 1C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | CCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTG... | CCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTG... |
Task1_train_15016 | The following genetic variant occurs in CDKN1C (cyclin dependent kinase inhibitor 1C) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Beckwith-Wiedemann syndrome | CCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTG... | CCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTG... |
Task1_train_15017 | An alteration has been detected in CDKN1C (cyclin dependent kinase inhibitor 1C) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Beckwith-Wiedemann syndrome | AGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTT... | AGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTT... |
Task1_train_15018 | The gene SLC22A18 (solute carrier family 67 member 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rhabdomyosarcoma, somatic | TGGAAAGAAGGGGAGTGGGACCCCAAGACTGAGCTTAGGGAAAGGTCCAGGGGAGGGGGCGGGGGCGGTGTATTAGCATCTGGGGCTGCCATAACAAAGTATCCAAAACCCTGGGGGCTTAGAGCAACAGAAGCCTATTGTCTCACAGTTTGGGAGGCCAGAAGTCTGAGATCAAGGCTCCCTCTGAAACCCACGGGGGAGGATCCTTCCCACCTCTTCCAGCCCCTGGGAGCCCAGACATCCCTTGGCTTGTGGCCACATCACTCTGTCTTCCCATGGATTTTTACAACGTCATCCATCCGAGTGTGTCTGTGTCCCAA... | TGGAAAGAAGGGGAGTGGGACCCCAAGACTGAGCTTAGGGAAAGGTCCAGGGGAGGGGGCGGGGGCGGTGTATTAGCATCTGGGGCTGCCATAACAAAGTATCCAAAACCCTGGGGGCTTAGAGCAACAGAAGCCTATTGTCTCACAGTTTGGGAGGCCAGAAGTCTGAGATCAAGGCTCCCTCTGAAACCCACGGGGGAGGATCCTTCCCACCTCTTCCAGCCCCTGGGAGCCCAGACATCCCTTGGCTTGTGGCCACATCACTCTGTCTTCCCATGGATTTTTACAACGTCATCCATCCGAGTGTGTCTGTGTCCCAA... |
Task1_train_15019 | Gene SLC22A18 (solute carrier family 67 member 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; SLC22A18-related disorder | TGGAAAGAAGGGGAGTGGGACCCCAAGACTGAGCTTAGGGAAAGGTCCAGGGGAGGGGGCGGGGGCGGTGTATTAGCATCTGGGGCTGCCATAACAAAGTATCCAAAACCCTGGGGGCTTAGAGCAACAGAAGCCTATTGTCTCACAGTTTGGGAGGCCAGAAGTCTGAGATCAAGGCTCCCTCTGAAACCCACGGGGGAGGATCCTTCCCACCTCTTCCAGCCCCTGGGAGCCCAGACATCCCTTGGCTTGTGGCCACATCACTCTGTCTTCCCATGGATTTTTACAACGTCATCCATCCGAGTGTGTCTGTGTCCCAA... | TGGAAAGAAGGGGAGTGGGACCCCAAGACTGAGCTTAGGGAAAGGTCCAGGGGAGGGGGCGGGGGCGGTGTATTAGCATCTGGGGCTGCCATAACAAAGTATCCAAAACCCTGGGGGCTTAGAGCAACAGAAGCCTATTGTCTCACAGTTTGGGAGGCCAGAAGTCTGAGATCAAGGCTCCCTCTGAAACCCACGGGGGAGGATCCTTCCCACCTCTTCCAGCCCCTGGGAGCCCAGACATCCCTTGGCTTGTGGCCACATCACTCTGTCTTCCCATGGATTTTTACAACGTCATCCATCCGAGTGTGTCTGTGTCCCAA... |
Task1_train_15020 | This variant affects the gene SLC22A18 (solute carrier family 67 member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lung carcinoma | AGTGGCCCAGGAAGGTGGGAAGGTGGCAAAGCAGCCTGAGGGGCACCTCCGGGGCTTTGCAAGGCTCTGGGATCCCAGCCCAAAGCCCCCTCCAAGCCCAGCATGCCCCACACTCTAGAAAGTGGGGAGGGGCCAACAGGAGGGGGGTCGGTTTCTGAGGGCCTGCTGAATGCCAGGCCCACCCTTGCCCACGCTGGGGAGGCAGCATAGCCATCCCCATGACACAGCACAGGTGCCCAGGTCTCGGAGAGCCCCTCCCAGGGACATGCACACCAGGCTTGCCCTTTGGAGCCTCTCCTGACCTTGGCCAGCGTGGGAGC... | AGTGGCCCAGGAAGGTGGGAAGGTGGCAAAGCAGCCTGAGGGGCACCTCCGGGGCTTTGCAAGGCTCTGGGATCCCAGCCCAAAGCCCCCTCCAAGCCCAGCATGCCCCACACTCTAGAAAGTGGGGAGGGGCCAACAGGAGGGGGGTCGGTTTCTGAGGGCCTGCTGAATGCCAGGCCCACCCTTGCCCACGCTGGGGAGGCAGCATAGCCATCCCCATGACACAGCACAGGTGCCCAGGTCTCGGAGAGCCCCTCCCAGGGACATGCACACCAGGCTTGCCCTTTGGAGCCTCTCCTGACCTTGGCCAGCGTGGGAGC... |
Task1_train_15021 | Consider this mutation in CARS1 (cysteinyl-tRNA synthetase 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Microcephaly, developmental delay, and brittle hair syndrome | CCTCTATTGCCCAGAGTGGAGTGCAGTAGTGCAATCACACCTCACTATTCAACCTCCTGGGCTCAAGCGAGCCCCTCACCTCAGCCTCCCAAGCAGCTGGAAAACAGGTGTGTGCCACCACACCTGGCTAATTTTTAATATATTTTATAGACCCGGGATCTCACTATGTTGTCCAGGCTGGTTTTGAACTCCTGGGCTCAGGTGATACACTCACCTGGCCTCCCACAGTGTTGGATTATAGATGTGAGCCACTGTGCTCCGCTTATGGGTGTTATTTCTAACGCGTGAAAAGCACACCAGGAACCAAAGAGGACAGAAGC... | CCTCTATTGCCCAGAGTGGAGTGCAGTAGTGCAATCACACCTCACTATTCAACCTCCTGGGCTCAAGCGAGCCCCTCACCTCAGCCTCCCAAGCAGCTGGAAAACAGGTGTGTGCCACCACACCTGGCTAATTTTTAATATATTTTATAGACCCGGGATCTCACTATGTTGTCCAGGCTGGTTTTGAACTCCTGGGCTCAGGTGATACACTCACCTGGCCTCCCACAGTGTTGGATTATAGATGTGAGCCACTGTGCTCCGCTTATGGGTGTTATTTCTAACGCGTGAAAAGCACACCAGGAACCAAAGAGGACAGAAGC... |
Task1_train_15022 | An alteration has been detected in CARS1 (cysteinyl-tRNA synthetase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Microcephaly, developmental delay, and brittle hair syndrome | CTCTTCCTCACGGCTTTCCGGGCTGCCATATAGAGGTTGCACTGACTGACCAAGGCCCGCATCTCTTCCATGACGGTGCGGGTGTCAACATTGTCACAGAGGGCTTTGTGAATTGCTGTCTTCTTGTCATAAAAGCTGAGCAACAAAGAGGAAGGAATGTGAAGTCAGACCTGAAAACACACCATAGAAATTCCCCATGTGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACAAACATGGAGAGACCCCCACCTCTAC... | CTCTTCCTCACGGCTTTCCGGGCTGCCATATAGAGGTTGCACTGACTGACCAAGGCCCGCATCTCTTCCATGACGGTGCGGGTGTCAACATTGTCACAGAGGGCTTTGTGAATTGCTGTCTTCTTGTCATAAAAGCTGAGCAACAAAGAGGAAGGAATGTGAAGTCAGACCTGAAAACACACCATAGAAATTCCCCATGTGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACAAACATGGAGAGACCCCCACCTCTAC... |
Task1_train_15023 | Consider a variant on Chromosome 11 in gene PGAP2 (post-GPI attachment to proteins 2). Determine its clinical classification and disease relevance. | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | CTCCAAAGAAAGCAATTTTCAGCTAAGTAGTACCTGTGAGGAATGTAGAACTATCTGCAGGCTGAACAATTGCCCTTCAGCTCCACCCTGAGGTGTGGAGTAGAATGACCAAGTTGGAAGGACCTTAGAGGTAATCTAAACCATGTGATTCCCATGTTGCAGAACTGTGGAAACAGATCTAGAGTGCTTAAGTGGCTTGCCAAAGGTCACACAGCTAAATGGGAGGCCAGGCATACCTCCAAGAATTGGAATGGATTATCCCTTGAACCTCCTCATCAACTCCTGATTTGGGCAGTGCCTCTTCATTCCCTGAAGATCTA... | CTCCAAAGAAAGCAATTTTCAGCTAAGTAGTACCTGTGAGGAATGTAGAACTATCTGCAGGCTGAACAATTGCCCTTCAGCTCCACCCTGAGGTGTGGAGTAGAATGACCAAGTTGGAAGGACCTTAGAGGTAATCTAAACCATGTGATTCCCATGTTGCAGAACTGTGGAAACAGATCTAGAGTGCTTAAGTGGCTTGCCAAAGGTCACACAGCTAAATGGGAGGCCAGGCATACCTCCAAGAATTGGAATGGATTATCCCTTGAACCTCCTCATCAACTCCTGATTTGGGCAGTGCCTCTTCATTCCCTGAAGATCTA... |
Task1_train_15024 | This genomic variant is located on Chromosome 11, within the PGAP2 (post-GPI attachment to proteins 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | GTAGAACTATCTGCAGGCTGAACAATTGCCCTTCAGCTCCACCCTGAGGTGTGGAGTAGAATGACCAAGTTGGAAGGACCTTAGAGGTAATCTAAACCATGTGATTCCCATGTTGCAGAACTGTGGAAACAGATCTAGAGTGCTTAAGTGGCTTGCCAAAGGTCACACAGCTAAATGGGAGGCCAGGCATACCTCCAAGAATTGGAATGGATTATCCCTTGAACCTCCTCATCAACTCCTGATTTGGGCAGTGCCTCTTCATTCCCTGAAGATCTAGTCTTCAATTTGGGAATCCTAGTGGTTCCTCAGGGATCTAGAGC... | GTAGAACTATCTGCAGGCTGAACAATTGCCCTTCAGCTCCACCCTGAGGTGTGGAGTAGAATGACCAAGTTGGAAGGACCTTAGAGGTAATCTAAACCATGTGATTCCCATGTTGCAGAACTGTGGAAACAGATCTAGAGTGCTTAAGTGGCTTGCCAAAGGTCACACAGCTAAATGGGAGGCCAGGCATACCTCCAAGAATTGGAATGGATTATCCCTTGAACCTCCTCATCAACTCCTGATTTGGGCAGTGCCTCTTCATTCCCTGAAGATCTAGTCTTCAATTTGGGAATCCTAGTGGTTCCTCAGGGATCTAGAGC... |
Task1_train_15025 | Consider a variant on Chromosome 11 in gene PGAP2 (post-GPI attachment to proteins 2). Determine its clinical classification and disease relevance. | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | ACATGGCAAAACCCTGTTGCTACTAAAAAAAAAAAAAAATCCAAAAAATTAGCCAGGCATGGTGGTGGCTACTTGGGAGGCTAAGGTGGGAGAATCACCTGAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC... | ACATGGCAAAACCCTGTTGCTACTAAAAAAAAAAAAAAATCCAAAAAATTAGCCAGGCATGGTGGTGGCTACTTGGGAGGCTAAGGTGGGAGAATCACCTGAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC... |
Task1_train_15026 | Gene PGAP2 (post-GPI attachment to proteins 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | GGAGAATCACCTGAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA... | GGAGAATCACCTGAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA... |
Task1_train_15027 | The gene PGAP2 (post-GPI attachment to proteins 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | GAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG... | GAGCCCAGAAAGTAGAGGCTGCAGTGAGCCGAGATCGGGCTATGGCACTCCAGCCTGGGCAACCGAAGTGAGACCCTGTCTCCAAAAACAAAAGCAAAAACAAAACGGCCGGGCGCAGTGGCTCACGTCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG... |
Task1_train_15028 | This mutation occurs in PGAP2 (post-GPI attachment to proteins 2) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 3 | TTCCTTAGACTACCCCAGGTTAGGAGCACCCACTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACACAGTTCTTCTGATCAGCCTCCTGAGTAGCTGGGACTACGGGCGCTGGCCACCACGCCTGGCTAATTTTTTTTTTTTAAGTAGGGACAGAGTTTTGCCATGTTGGCCAGGCTGGTCTTTAACTCCTGACCTCGGGTGATCCACCCACCTCGGCCTCCC... | TTCCTTAGACTACCCCAGGTTAGGAGCACCCACTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACACAGTTCTTCTGATCAGCCTCCTGAGTAGCTGGGACTACGGGCGCTGGCCACCACGCCTGGCTAATTTTTTTTTTTTAAGTAGGGACAGAGTTTTGCCATGTTGGCCAGGCTGGTCTTTAACTCCTGACCTCGGGTGATCCACCCACCTCGGCCTCCC... |
Task1_train_15029 | A mutation in STIM1 (stromal interaction molecule 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | CTCCCTAAGTTCCCACTACCCCTTCATCCCACTCCCCAATTTAGCAGAACAAATGTAGAGAGAAATAAGTTTATGCAGAGATATTTCTTTTTGTATGCATACTGTTTATCATACTTTTTTCTTTTATCAAACCATTGCAGGCTGGGCGTGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGACTTCGAGACTGGCCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAG... | CTCCCTAAGTTCCCACTACCCCTTCATCCCACTCCCCAATTTAGCAGAACAAATGTAGAGAGAAATAAGTTTATGCAGAGATATTTCTTTTTGTATGCATACTGTTTATCATACTTTTTTCTTTTATCAAACCATTGCAGGCTGGGCGTGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGACTTCGAGACTGGCCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAG... |
Task1_train_15030 | A sequence alteration has been identified in STIM1 (stromal interaction molecule 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Myopathy with tubular aggregates | ACTCCCCAATTTAGCAGAACAAATGTAGAGAGAAATAAGTTTATGCAGAGATATTTCTTTTTGTATGCATACTGTTTATCATACTTTTTTCTTTTATCAAACCATTGCAGGCTGGGCGTGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGACTTCGAGACTGGCCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGG... | ACTCCCCAATTTAGCAGAACAAATGTAGAGAGAAATAAGTTTATGCAGAGATATTTCTTTTTGTATGCATACTGTTTATCATACTTTTTTCTTTTATCAAACCATTGCAGGCTGGGCGTGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGACTTCGAGACTGGCCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGG... |
Task1_train_15031 | The gene STIM1 (stromal interaction molecule 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Myopathy, tubular aggregate, 1 | CATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGT... | CATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGT... |
Task1_train_15032 | A mutation on Chromosome 11 affecting STIM1 (stromal interaction molecule 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Stormorken syndrome | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... |
Task1_train_15033 | Given this variant in gene STIM1 (stromal interaction molecule 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Myopathy with tubular aggregates | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... |
Task1_train_15034 | Here is a variant affecting STIM1 (stromal interaction molecule 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... | ATTGTAGAGATCTTTTACCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTG... |
Task1_train_15035 | This sequence variant lies in STIM1 (stromal interaction molecule 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Myopathy with tubular aggregates | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... |
Task1_train_15036 | Here is a mutation in STIM1 (stromal interaction molecule 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... |
Task1_train_15037 | A variant has been detected on Chromosome 11 in STIM1 (stromal interaction molecule 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Stormorken syndrome | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... | CCTCCTTGGTTAAATTTATTCTTAGGTATTTTATTATTTTTTGTAGCTATTGTAAATGGGATTTTTTTTAATTTCTTTTTCAGATTTGTTTACTAGCTCTAACAGTTTTTTGGTGGTGTCTGTAGGTTTTTCTAGATTTAATATCATGTTATTGGCTGGGCATGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAAGCAGAGGTGGGTGGATCCCTTGAGATCAGGAGTTTGAGACCAGCCTGGGTAACGTGGTAAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCCAGGTGGGGTGGCGTGCACACCTATAGT... |
Task1_train_15038 | A variant found in Chromosome 11 affects STIM1 (stromal interaction molecule 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Myopathy with tubular aggregates | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... |
Task1_train_15039 | This sequence change occurs on Chromosome 11, altering STIM1 (stromal interaction molecule 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... |
Task1_train_15040 | The gene STIM1 (stromal interaction molecule 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Stormorken syndrome | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... |
Task1_train_15041 | Chromosome 11 houses a mutation in gene STIM1 (stromal interaction molecule 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... |
Task1_train_15042 | Located on Chromosome 11, this mutation impacts STIM1 (stromal interaction molecule 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Stormorken syndrome | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... | TCTACACCCAACAATGATTATTGTTCTCCATCTCTAACAGACCTTATTGGAACTATGAAAGGGTGTCAGTCTTGATTCTACTTTAAAGGAGCTCGCTATTATTATAAAGGACAGACATATCATAGTATTGGCTTTTCTCAAGAGGCTGCTTTCATAAAAGGACAGTATTTCAGTGAAGAAGTGAATCCTTAATGGTGTAACTTTATATAGTTGGGTCATGGAAGAGTACAGTAAAGGAGGATATTCAGCAAGGGAAGGAGATGGCAGGAAATGGCGCCTCTGATTTGTCTTTGCCTATGCATATATCGCCATCTGGTGTT... |
Task1_train_15043 | This alteration occurs within gene STIM1 (stromal interaction molecule 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Stormorken syndrome | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... |
Task1_train_15044 | This alteration occurs within gene STIM1 (stromal interaction molecule 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Myopathy with tubular aggregates | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... |
Task1_train_15045 | Consider this mutation in STIM1 (stromal interaction molecule 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... | AGACAGCAAGAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATT... |
Task1_train_15046 | Located on Chromosome 11, this mutation impacts STIM1 (stromal interaction molecule 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Stormorken syndrome | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... |
Task1_train_15047 | Chromosome 11 houses a mutation in gene STIM1 (stromal interaction molecule 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Myopathy with tubular aggregates | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... |
Task1_train_15048 | A variant found in Chromosome 11 affects STIM1 (stromal interaction molecule 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Combined immunodeficiency due to STIM1 deficiency | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... | GAAACTCAGTGTACATAATGTCTGTATGTACTTTCAAGTCTTTTACACTTTAGTGCTTTGTGACTGCCTCATTGTGTGCTCCCTGCAGAGAAGTCGGTTATTTCTACTTATACATTGGTCCTCTCATGTCTTGGCTTCTGTTGGCAATGCCTGTGTTAGGTGTGGGCATGCTCATTATCTTCCCACCTTTTACAGAGTTCTTTTCAAAGCCCACTTGCTCTACTCCCTGAGAGAATCATAGACGCAGTCTCTGGGCTAGAGAAGACTTTGGAGAGCATTCAGGACAATGCCCTTCTGAAGTACCAATCATTTTTCAGTTC... |
Task1_train_15049 | This variant affects the gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTAC... | TGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTAC... |
Task1_train_15050 | Here is a mutation in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15051 | With a mutation on Chromosome 11 in gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hemoglobinopathy | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15052 | A change on Chromosome 11 affects gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Heinz body anemia | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15053 | Here is a genetic alteration in HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hb SS disease | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15054 | This variant lies on Chromosome 11 and affects the gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15055 | This alteration occurs within gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Dominant beta-thalassemia | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15056 | The gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Malaria, susceptibility to | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15057 | A sequence alteration has been identified in HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Erythrocytosis, familial, 6 | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15058 | This sequence variant lies in HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary persistence of fetal hemoglobin | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15059 | Gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Beta-thalassemia HBB/LCRB | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... | GTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACT... |
Task1_train_15060 | A mutation in HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTG... | TCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTG... |
Task1_train_15061 | This gene mutation involves HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; not specified | ATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTG... | ATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTG... |
Task1_train_15062 | This genomic variant is located on Chromosome 11, within the HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hemoglobinopathy | ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGA... | ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGA... |
Task1_train_15063 | The gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hemoglobinopathy | GCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTT... | GCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTT... |
Task1_train_15064 | Gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | GAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTG... | GAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTG... |
Task1_train_15065 | Gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTT... | TTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTT... |
Task1_train_15066 | A mutation found in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dominant beta-thalassemia | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15067 | A mutation in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Beta-thalassemia HBB/LCRB | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15068 | Here is a variant affecting LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Heinz body anemia | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15069 | A variant has been detected on Chromosome 11 in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Malaria, susceptibility to | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15070 | Here is a variant affecting LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Dominant beta-thalassemia | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15071 | An alteration has been detected in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary persistence of fetal hemoglobin | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15072 | Gene LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Erythrocytosis, familial, 6 | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15073 | Here is a genetic alteration in LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15074 | The gene LOC107133510, LOC110006319, HBB (origin of replication at HBB| beta-globin gene 3' regulatory region| hemoglobin subunit beta) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hb SS disease | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... | CCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGT... |
Task1_train_15075 | Chromosome 11 houses a mutation in gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hb SS disease | AGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCC... | AGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCC... |
Task1_train_15076 | This mutation is located in gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; beta Thalassemia | AGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCC... | AGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCC... |
Task1_train_15077 | This variant lies on Chromosome 11 and affects the gene HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGT... | TGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGT... |
Task1_train_15078 | Here is a variant affecting HBB, LOC107133510, LOC110006319 (hemoglobin subunit beta| origin of replication at HBB| beta-globin gene 3' regulatory region) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | AAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAAT... | AAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAAT... |
Task1_train_15079 | The gene LOC106099062, LOC107133510, HBB (HBB recombination region| origin of replication at HBB| hemoglobin subunit beta), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hemoglobinopathy | GACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGC... | GACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGC... |
Task1_train_15080 | A genetic alteration is present in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTG... | CCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTG... |
Task1_train_15081 | A variant was discovered in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hemoglobinopathy | AGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGAT... | AGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGAT... |
Task1_train_15082 | This mutation occurs in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | AATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAG... | AATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAG... |
Task1_train_15083 | The gene LOC106099062, HBB, LOC107133510 (HBB recombination region| hemoglobin subunit beta| origin of replication at HBB) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACT... | CTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACT... |
Task1_train_15084 | A genetic alteration is present in LOC107133510, HBB, LOC106099062 (origin of replication at HBB| hemoglobin subunit beta| HBB recombination region) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCC... | GAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCC... |
Task1_train_15085 | Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; beta Thalassemia | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... |
Task1_train_15086 | A variant affecting Chromosome 11, within the gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... |
Task1_train_15087 | Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... | CCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGA... |
Task1_train_15088 | The gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTG... | TAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTG... |
Task1_train_15089 | Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hemolytic anemia | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... |
Task1_train_15090 | This mutation occurs in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hemolytic anemia | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... |
Task1_train_15091 | A variant was discovered in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Erythrocytosis, familial, 6 | GGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACC... | GGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACC... |
Task1_train_15092 | This sequence variant lies in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypertrophic cardiomyopathy 26 | GGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACC... | GGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACC... |
Task1_train_15093 | Here is a mutation in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; beta Thalassemia | AGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATC... | AGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATC... |
Task1_train_15094 | Here’s a variant in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; beta Thalassemia | ATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACAT... | ATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACAT... |
Task1_train_15095 | A mutation found in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hb SS disease | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... |
Task1_train_15096 | A variant affecting Chromosome 11, within the gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Heinz body anemia | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... |
Task1_train_15097 | A mutation on Chromosome 11 affecting HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Dominant beta-thalassemia | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... |
Task1_train_15098 | Mutation context: Chromosome 11, Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Erythrocytosis, familial, 6 | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... |
Task1_train_15099 | A variant affecting Chromosome 11, within the gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), has been observed. Determine if it's benign or associated with disease. | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... | GTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAAT... |
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