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train · 48.9k rows

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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_7300	This variant lies on Chromosome 3 and affects the gene ZBTB20 (zinc finger and BTB domain containing 20). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Primrose syndrome	CAGCAAAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTG...	CAGCAAAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTG...
Task1_train_7301	This sequence variant lies in ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?	Pathogenic; not provided	AAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCA...	AAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCA...
Task1_train_7302	Given a variant located on Chromosome 3 and affecting ZBTB20 (zinc finger and BTB domain containing 20), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Primrose syndrome	TTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTT...	TTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTT...
Task1_train_7303	A variant was discovered in gene ZBTB20 (zinc finger and BTB domain containing 20), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; not provided	TTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTA...	TTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTA...
Task1_train_7304	Given this context: Chromosome 3, gene ZBTB20 (zinc finger and BTB domain containing 20) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Primrose syndrome	CTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAAT...	CTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAAT...
Task1_train_7305	Here is a variant affecting ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Primrose syndrome	TCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACT...	TCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACT...
Task1_train_7306	The following genetic variant occurs in ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Primrose syndrome	GGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTT...	GGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTT...
Task1_train_7307	This sequence change occurs on Chromosome 3, altering ZBTB20 (zinc finger and BTB domain containing 20). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Intellectual disability	GGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTT...	GGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTT...
Task1_train_7308	This variant affects the gene ZBTB20 (zinc finger and BTB domain containing 20) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; not provided	CCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTTTAAAAACTGATTCTCATAAAA...	CCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTTTAAAAACTGATTCTCATAAAA...
Task1_train_7309	This sequence variant lies in POGLUT1 (protein O-glucosyltransferase 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?	Pathogenic; not provided	CACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAATTACCCGGGCATGGTGACACACTCCTGTAATCCCAGCTACTCGGGAGACTGAGACAGAAGAATTGCTTGAACCCGGGAGGCAGACGTCATAGTGAGCCAAGATTGTGCCACTGCACTCCAGGCTGGGCAACAGAGTTAGACTGTCCTCTGTCTCAAAAAAAAAAAAAAATCGAATTGGCTTTTATTAGTGATTCATGAATCAGGCAGCATCTCATCTATAAAACAGAAAAGTGTTCTAATGAGCTGAG...	CACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAATTACCCGGGCATGGTGACACACTCCTGTAATCCCAGCTACTCGGGAGACTGAGACAGAAGAATTGCTTGAACCCGGGAGGCAGACGTCATAGTGAGCCAAGATTGTGCCACTGCACTCCAGGCTGGGCAACAGAGTTAGACTGTCCTCTGTCTCAAAAAAAAAAAAAAATCGAATTGGCTTTTATTAGTGATTCATGAATCAGGCAGCATCTCATCTATAAAACAGAAAAGTGTTCTAATGAGCTGAG...
Task1_train_7310	Given this context: Chromosome 3, gene POGLUT1 (protein O-glucosyltransferase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; not provided	TGCTTGGCTACTCTGGACCTGCCTGAAACACTGAGGGGTCGGGGATGGGGGCAAATGTCGTGCGCGCGAGCGTGTGTGTATATGCGTTGCCAGAAGAGAAGAGGGGTTTAATGTCTGTAGCTTTTAACTGATCCTCTTTGTGGAGTTCAATTTGATTAGTAGAAAGTGAGAGTCCGCGTCACTATCCATAGCATTCTGAGGGTTGAGCATTAAGCTTGGGAATTTTCCAGTTTCTTGGACACCTGACAGCCGGATAGAGGAACAGACTTGACGTGAGCGTGGGAGTTGCACACACAAAAATTCCTCCCTAGCGTTTCGTT...	TGCTTGGCTACTCTGGACCTGCCTGAAACACTGAGGGGTCGGGGATGGGGGCAAATGTCGTGCGCGCGAGCGTGTGTGTATATGCGTTGCCAGAAGAGAAGAGGGGTTTAATGTCTGTAGCTTTTAACTGATCCTCTTTGTGGAGTTCAATTTGATTAGTAGAAAGTGAGAGTCCGCGTCACTATCCATAGCATTCTGAGGGTTGAGCATTAAGCTTGGGAATTTTCCAGTTTCTTGGACACCTGACAGCCGGATAGAGGAACAGACTTGACGTGAGCGTGGGAGTTGCACACACAAAAATTCCTCCCTAGCGTTTCGTT...
Task1_train_7311	A variant was discovered in gene POGLUT1 (protein O-glucosyltransferase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2R1	ATGAAATGGTAGCAAAAGGAAACAAAGTGTCCTTTAGGGCTTTTTCTTTTGAGTGACTTTGATTAGACTTACTTAGAAATATGAAGCTCTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAAGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACACAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGGGGAGCTTGCAGTCAGC...	ATGAAATGGTAGCAAAAGGAAACAAAGTGTCCTTTAGGGCTTTTTCTTTTGAGTGACTTTGATTAGACTTACTTAGAAATATGAAGCTCTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAAGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACACAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGGGGAGCTTGCAGTCAGC...
Task1_train_7312	Given this variant in gene POGLUT1 (protein O-glucosyltransferase 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; not provided	ATGGGCTATATACACCCCTAAGGCCATCAGCCAGCACTTGGGACCTTCTCTGCATACATTATTTACACAGAGTGAAGTGTGCTGCAGGCTGTGACATCTGAATTCAAAGGAGGGCAACATGGCTTTAGGTGTGCTTAAACTTTAAAATCAGACGGGCCCTGGTTAAAACTCTGTCTTCTATTTAGAGCCACACTGACCTTGAGCAAATCTCAACTTCCAAAGCCTTGGCTTCTGCATTTATATAATGGGAATAATAATGTCTCCTGAGTATATTGATTATGAAGCTTAAATGAGGTAATGTTGATGAAATGTTTAACAAT...	ATGGGCTATATACACCCCTAAGGCCATCAGCCAGCACTTGGGACCTTCTCTGCATACATTATTTACACAGAGTGAAGTGTGCTGCAGGCTGTGACATCTGAATTCAAAGGAGGGCAACATGGCTTTAGGTGTGCTTAAACTTTAAAATCAGACGGGCCCTGGTTAAAACTCTGTCTTCTATTTAGAGCCACACTGACCTTGAGCAAATCTCAACTTCCAAAGCCTTGGCTTCTGCATTTATATAATGGGAATAATAATGTCTCCTGAGTATATTGATTATGAAGCTTAAATGAGGTAATGTTGATGAAATGTTTAACAAT...
Task1_train_7313	The gene CFAP91, LOC129937328 (cilia and flagella associated protein 91\| ATAC-STARR-seq lymphoblastoid active region 20324) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; CFAP91-related condition	CAGCTCCCAGTCACATACCCACTACTTGCTCAATCGATCACGACCCACTCACGCAGACCCTCTTAGAGTTGTATGCCCTTAAAAGGGACAGGAATTGCTCACTCCGGGAGCTCGGTTTTCGAAGATGTGAGTCCGCCAATGCTCCCAGCTGAATAAAGCCCTTTCCTTCCATAACTCGGTGTCTGAGCGGTTCTTGTCTGTGGCTCGTCCGGCTACAAACCCACAAGTGGATAGAAAATAACCTAATCCTATGGGACAGAAAAAGGAAAAGGGGAGGAGTCATAAGGGGATATAAACATAAGATACCCAAACCAGAAATG...	CAGCTCCCAGTCACATACCCACTACTTGCTCAATCGATCACGACCCACTCACGCAGACCCTCTTAGAGTTGTATGCCCTTAAAAGGGACAGGAATTGCTCACTCCGGGAGCTCGGTTTTCGAAGATGTGAGTCCGCCAATGCTCCCAGCTGAATAAAGCCCTTTCCTTCCATAACTCGGTGTCTGAGCGGTTCTTGTCTGTGGCTCGTCCGGCTACAAACCCACAAGTGGATAGAAAATAACCTAATCCTATGGGACAGAAAAAGGAAAAGGGGAGGAGTCATAAGGGGATATAAACATAAGATACCCAAACCAGAAATG...
Task1_train_7314	Here’s a variant in HGD (homogentisate 1,2-dioxygenase) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?	Pathogenic; See cases	TTTACCTATATAACAAATCTTCACATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAA...	TTTACCTATATAACAAATCTTCACATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAA...
Task1_train_7315	This sequence change occurs on Chromosome 3, altering HGD (homogentisate 1,2-dioxygenase). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Alkaptonuria	TTTACCTATATAACAAATCTTCACATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAA...	TTTACCTATATAACAAATCTTCACATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAA...
Task1_train_7316	This is a variant in HGD (homogentisate 1,2-dioxygenase), located on Chromosome 3. Is this mutation a likely cause of disease or not?	Pathogenic; Alkaptonuria	ATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAATAAATAATAAGTAATAAAGATTTT...	ATGTACCCCTGAACCTCAAATAAAAGTTAAAAATAAATAAAGAAATAAAAGAAAAAAAATGAATAAGACCTAGCATTTGATAGCATAACAGGGTGACCATAGTCAATAAAAATTTAATTGCACATTTTAAAATAACTGAAAGAATATAATTGGATTGTTTGTAACACAAAGGATAAATGCTTGAGGTAATGGATACCCCATTTATCTTGATGTGATTATTACGTATCATATGCCTGTATCATCATATCTCATGTACCCCATAAATATACATACTTATTATGTATCCATAAAAATAATAAATAATAAGTAATAAAGATTTT...
Task1_train_7317	A change on Chromosome 3 affects gene HGD (homogentisate 1,2-dioxygenase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.	Pathogenic; Alkaptonuria	TAGAAATGTTGAGGTATCTGAGCCTAGCAATAGCGGGAAGACACTGCTATTCCTGGGCATGTGGAATGAGGAGGGAAATATTGTTATAGGACTTTAGCAAGAGCTAGAATTATAAAGAAGGGTGTTACCCAGTGGTGTGCTGGTAAATATTTCACAACTAGCACTCTGAAAAAAATACATAAAGCATTGACATATAGTGTTTACTGATTTCTAAGGTGTATACAGTCTCACCATGATGATTTTCTAGCTACCAGTATGACATCAACAAATACACAGTTGGACAGAAGCGTGCATATCAGCTTTTGCAAGTCACTATGAAT...	TAGAAATGTTGAGGTATCTGAGCCTAGCAATAGCGGGAAGACACTGCTATTCCTGGGCATGTGGAATGAGGAGGGAAATATTGTTATAGGACTTTAGCAAGAGCTAGAATTATAAAGAAGGGTGTTACCCAGTGGTGTGCTGGTAAATATTTCACAACTAGCACTCTGAAAAAAATACATAAAGCATTGACATATAGTGTTTACTGATTTCTAAGGTGTATACAGTCTCACCATGATGATTTTCTAGCTACCAGTATGACATCAACAAATACACAGTTGGACAGAAGCGTGCATATCAGCTTTTGCAAGTCACTATGAAT...
Task1_train_7318	Gene HGD (homogentisate 1,2-dioxygenase) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; Alkaptonuria	TTGAGGTATCTGAGCCTAGCAATAGCGGGAAGACACTGCTATTCCTGGGCATGTGGAATGAGGAGGGAAATATTGTTATAGGACTTTAGCAAGAGCTAGAATTATAAAGAAGGGTGTTACCCAGTGGTGTGCTGGTAAATATTTCACAACTAGCACTCTGAAAAAAATACATAAAGCATTGACATATAGTGTTTACTGATTTCTAAGGTGTATACAGTCTCACCATGATGATTTTCTAGCTACCAGTATGACATCAACAAATACACAGTTGGACAGAAGCGTGCATATCAGCTTTTGCAAGTCACTATGAATCAGCTCCA...	TTGAGGTATCTGAGCCTAGCAATAGCGGGAAGACACTGCTATTCCTGGGCATGTGGAATGAGGAGGGAAATATTGTTATAGGACTTTAGCAAGAGCTAGAATTATAAAGAAGGGTGTTACCCAGTGGTGTGCTGGTAAATATTTCACAACTAGCACTCTGAAAAAAATACATAAAGCATTGACATATAGTGTTTACTGATTTCTAAGGTGTATACAGTCTCACCATGATGATTTTCTAGCTACCAGTATGACATCAACAAATACACAGTTGGACAGAAGCGTGCATATCAGCTTTTGCAAGTCACTATGAATCAGCTCCA...
Task1_train_7319	This is a variant in HGD (homogentisate 1,2-dioxygenase), located on Chromosome 3. Is this mutation a likely cause of disease or not?	Pathogenic; Alkaptonuria	AGGACCTGCCTGCTTACCTTTGCTTAGGAGTGAGTGTTTCCTCCAGAGAAAGGAAATAAATCAAAAGACCAAACATGAAAAACTTAAGTGCAAAAACAGTTTAACTCTGAGAGGAGCGAGCTGAGGAGTGTTTTATCATTTCCAGCTCCTGGACTTAAAAAAATAAGTCCCCGGCTGGTTAGCAAATTATAGATATTTTCCAGAGGGTACATGTTCCACGGAACCTGGAGGCTATGCTGACTATAGAGCAGCAGGAAGCCAGAGCAGAGTGGGAAGAGTGGGAGGTGAACAGGATGACAGACGGCCCACCACGGCTCCAG...	AGGACCTGCCTGCTTACCTTTGCTTAGGAGTGAGTGTTTCCTCCAGAGAAAGGAAATAAATCAAAAGACCAAACATGAAAAACTTAAGTGCAAAAACAGTTTAACTCTGAGAGGAGCGAGCTGAGGAGTGTTTTATCATTTCCAGCTCCTGGACTTAAAAAAATAAGTCCCCGGCTGGTTAGCAAATTATAGATATTTTCCAGAGGGTACATGTTCCACGGAACCTGGAGGCTATGCTGACTATAGAGCAGCAGGAAGCCAGAGCAGAGTGGGAAGAGTGGGAGGTGAACAGGATGACAGACGGCCCACCACGGCTCCAG...
Task1_train_7320	Given this context: Chromosome 3, gene HGD (homogentisate 1,2-dioxygenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Alkaptonuria	GCTTAGGAGTGAGTGTTTCCTCCAGAGAAAGGAAATAAATCAAAAGACCAAACATGAAAAACTTAAGTGCAAAAACAGTTTAACTCTGAGAGGAGCGAGCTGAGGAGTGTTTTATCATTTCCAGCTCCTGGACTTAAAAAAATAAGTCCCCGGCTGGTTAGCAAATTATAGATATTTTCCAGAGGGTACATGTTCCACGGAACCTGGAGGCTATGCTGACTATAGAGCAGCAGGAAGCCAGAGCAGAGTGGGAAGAGTGGGAGGTGAACAGGATGACAGACGGCCCACCACGGCTCCAGCTGCCTCTTGCTGCCTCCCAC...	GCTTAGGAGTGAGTGTTTCCTCCAGAGAAAGGAAATAAATCAAAAGACCAAACATGAAAAACTTAAGTGCAAAAACAGTTTAACTCTGAGAGGAGCGAGCTGAGGAGTGTTTTATCATTTCCAGCTCCTGGACTTAAAAAAATAAGTCCCCGGCTGGTTAGCAAATTATAGATATTTTCCAGAGGGTACATGTTCCACGGAACCTGGAGGCTATGCTGACTATAGAGCAGCAGGAAGCCAGAGCAGAGTGGGAAGAGTGGGAGGTGAACAGGATGACAGACGGCCCACCACGGCTCCAGCTGCCTCTTGCTGCCTCCCAC...
Task1_train_7321	Located on Chromosome 3, this mutation impacts HGD (homogentisate 1,2-dioxygenase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Alkaptonuria	ACTCATATTTGGCTCAGAATACATCAATTCAAATATTTTACATATTAATAGTTTGACTATTTTTGTCAACAATAATTTGGCACCTGGACACATTGGGCCTCAGAGAAGACTCAGAACCCTGAAGGAGTTGCCTGAACTCAGAGCTAAGGTATCAGCAGGGACCTATTGAAAGCGCCTTCAACTTTGGGCTTCTCCTCTGATGGAACTGTTAAGTCCTCCTGAGCCCTGTTTGGTTGACAGTTCTTGATTTTTCCCTCCTAGGAAGCTCTTGTTTAGGTTCCTAATTCTAGTTCACAGGTCCATTCTAAAGGATTTCTCCA...	ACTCATATTTGGCTCAGAATACATCAATTCAAATATTTTACATATTAATAGTTTGACTATTTTTGTCAACAATAATTTGGCACCTGGACACATTGGGCCTCAGAGAAGACTCAGAACCCTGAAGGAGTTGCCTGAACTCAGAGCTAAGGTATCAGCAGGGACCTATTGAAAGCGCCTTCAACTTTGGGCTTCTCCTCTGATGGAACTGTTAAGTCCTCCTGAGCCCTGTTTGGTTGACAGTTCTTGATTTTTCCCTCCTAGGAAGCTCTTGTTTAGGTTCCTAATTCTAGTTCACAGGTCCATTCTAAAGGATTTCTCCA...
Task1_train_7322	Here is a mutation in HGD (homogentisate 1,2-dioxygenase) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; Alkaptonuria	CTCATATTTGGCTCAGAATACATCAATTCAAATATTTTACATATTAATAGTTTGACTATTTTTGTCAACAATAATTTGGCACCTGGACACATTGGGCCTCAGAGAAGACTCAGAACCCTGAAGGAGTTGCCTGAACTCAGAGCTAAGGTATCAGCAGGGACCTATTGAAAGCGCCTTCAACTTTGGGCTTCTCCTCTGATGGAACTGTTAAGTCCTCCTGAGCCCTGTTTGGTTGACAGTTCTTGATTTTTCCCTCCTAGGAAGCTCTTGTTTAGGTTCCTAATTCTAGTTCACAGGTCCATTCTAAAGGATTTCTCCAT...	CTCATATTTGGCTCAGAATACATCAATTCAAATATTTTACATATTAATAGTTTGACTATTTTTGTCAACAATAATTTGGCACCTGGACACATTGGGCCTCAGAGAAGACTCAGAACCCTGAAGGAGTTGCCTGAACTCAGAGCTAAGGTATCAGCAGGGACCTATTGAAAGCGCCTTCAACTTTGGGCTTCTCCTCTGATGGAACTGTTAAGTCCTCCTGAGCCCTGTTTGGTTGACAGTTCTTGATTTTTCCCTCCTAGGAAGCTCTTGTTTAGGTTCCTAATTCTAGTTCACAGGTCCATTCTAAAGGATTTCTCCAT...
Task1_train_7323	A mutation in HGD (homogentisate 1,2-dioxygenase), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Alkaptonuria	ACAAAGGGGAAGCAGGAGATTTCCTTGGGTTGTGGAAAGTGGCGGGGTGGGGAGAGAGGGAGGAGAGAGAGAGTAGGAGGGAGGGAAAGAGGGCAGAAGAAGCCTTCAGAGTAAAAAATAATATAAAATGAAGAAATAAAGTTACCTGAATAATGTAAATTCAGGTAAATATAAATAGCTGTATCAGAATCATGGTTCTTGCCTATCACATGCCAGGCATTGTATGAAGCAGGTTCACACCTATTCTCTCATAATCTTCACAATAGCACTGTGAGGCAAATGTTATCATCCCATTTTACAATTGAAACATCATAGCTTAA...	ACAAAGGGGAAGCAGGAGATTTCCTTGGGTTGTGGAAAGTGGCGGGGTGGGGAGAGAGGGAGGAGAGAGAGAGTAGGAGGGAGGGAAAGAGGGCAGAAGAAGCCTTCAGAGTAAAAAATAATATAAAATGAAGAAATAAAGTTACCTGAATAATGTAAATTCAGGTAAATATAAATAGCTGTATCAGAATCATGGTTCTTGCCTATCACATGCCAGGCATTGTATGAAGCAGGTTCACACCTATTCTCTCATAATCTTCACAATAGCACTGTGAGGCAAATGTTATCATCCCATTTTACAATTGAAACATCATAGCTTAA...
Task1_train_7324	Here is a mutation in HGD (homogentisate 1,2-dioxygenase) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; See cases	ACAAAGGGGAAGCAGGAGATTTCCTTGGGTTGTGGAAAGTGGCGGGGTGGGGAGAGAGGGAGGAGAGAGAGAGTAGGAGGGAGGGAAAGAGGGCAGAAGAAGCCTTCAGAGTAAAAAATAATATAAAATGAAGAAATAAAGTTACCTGAATAATGTAAATTCAGGTAAATATAAATAGCTGTATCAGAATCATGGTTCTTGCCTATCACATGCCAGGCATTGTATGAAGCAGGTTCACACCTATTCTCTCATAATCTTCACAATAGCACTGTGAGGCAAATGTTATCATCCCATTTTACAATTGAAACATCATAGCTTAA...	ACAAAGGGGAAGCAGGAGATTTCCTTGGGTTGTGGAAAGTGGCGGGGTGGGGAGAGAGGGAGGAGAGAGAGAGTAGGAGGGAGGGAAAGAGGGCAGAAGAAGCCTTCAGAGTAAAAAATAATATAAAATGAAGAAATAAAGTTACCTGAATAATGTAAATTCAGGTAAATATAAATAGCTGTATCAGAATCATGGTTCTTGCCTATCACATGCCAGGCATTGTATGAAGCAGGTTCACACCTATTCTCTCATAATCTTCACAATAGCACTGTGAGGCAAATGTTATCATCCCATTTTACAATTGAAACATCATAGCTTAA...
Task1_train_7325	Here is a variant affecting HGD (homogentisate 1,2-dioxygenase) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Alkaptonuria	GGTGGTGGGGCCCAGAGCCTGAATATTAAGCAAGTTCTTCGTTTTAGAAATGAGGAAACCAAGGTTGGGAGAAGCTAAGCAACTTACTCAAATACATAGGGTATTTCATTTTAAATTTAATTTTATTACTTTATCTTTTGAATTTTCTTACCCCAGTTGTACTTTTGTGTAAATGTGATTTCATTTACGGCTTTGTGTTGACATATTCATTAAAATGAAGAAATAAAAGATGAGAAACAGTTTTAAAAATTATATAATGTTTATTGATTAGAATGAATATGATGCAATCTGGTTTTCTGTGTTCAGATTCCTGACCTCTG...	GGTGGTGGGGCCCAGAGCCTGAATATTAAGCAAGTTCTTCGTTTTAGAAATGAGGAAACCAAGGTTGGGAGAAGCTAAGCAACTTACTCAAATACATAGGGTATTTCATTTTAAATTTAATTTTATTACTTTATCTTTTGAATTTTCTTACCCCAGTTGTACTTTTGTGTAAATGTGATTTCATTTACGGCTTTGTGTTGACATATTCATTAAAATGAAGAAATAAAAGATGAGAAACAGTTTTAAAAATTATATAATGTTTATTGATTAGAATGAATATGATGCAATCTGGTTTTCTGTGTTCAGATTCCTGACCTCTG...
Task1_train_7326	An alteration has been detected in HGD (homogentisate 1,2-dioxygenase) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?	Pathogenic; Alkaptonuria	CCCAGAGCCTGAATATTAAGCAAGTTCTTCGTTTTAGAAATGAGGAAACCAAGGTTGGGAGAAGCTAAGCAACTTACTCAAATACATAGGGTATTTCATTTTAAATTTAATTTTATTACTTTATCTTTTGAATTTTCTTACCCCAGTTGTACTTTTGTGTAAATGTGATTTCATTTACGGCTTTGTGTTGACATATTCATTAAAATGAAGAAATAAAAGATGAGAAACAGTTTTAAAAATTATATAATGTTTATTGATTAGAATGAATATGATGCAATCTGGTTTTCTGTGTTCAGATTCCTGACCTCTGGAGTTAACCT...	CCCAGAGCCTGAATATTAAGCAAGTTCTTCGTTTTAGAAATGAGGAAACCAAGGTTGGGAGAAGCTAAGCAACTTACTCAAATACATAGGGTATTTCATTTTAAATTTAATTTTATTACTTTATCTTTTGAATTTTCTTACCCCAGTTGTACTTTTGTGTAAATGTGATTTCATTTACGGCTTTGTGTTGACATATTCATTAAAATGAAGAAATAAAAGATGAGAAACAGTTTTAAAAATTATATAATGTTTATTGATTAGAATGAATATGATGCAATCTGGTTTTCTGTGTTCAGATTCCTGACCTCTGGAGTTAACCT...
Task1_train_7327	This sequence variant lies in CASR (calcium sensing receptor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Autosomal dominant hypocalcemia 1	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...
Task1_train_7328	A variant was discovered on Chromosome 3, affecting CASR (calcium sensing receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.	Pathogenic; Familial hypocalciuric hypercalcemia	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...
Task1_train_7329	A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Familial hypocalciuric hypercalcemia	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...
Task1_train_7330	A mutation in CASR (calcium sensing receptor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Autosomal dominant hypocalcemia 1	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...
Task1_train_7331	Here’s a variant in CASR (calcium sensing receptor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?	Pathogenic; Familial hypocalciuric hypercalcemia	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...	TTAAAATTAGCCAGGTGTGGGTAGCATGTGTTTGTAGTCCCAGCCACTCAAGAGGCAGAGGTGAGAGGACTGCTTGAGTCTGGGAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAA...
Task1_train_7332	Gene CASR (calcium sensing receptor) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Bartter syndrome with hypocalcemia	GAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGG...	GAGGTTGAGGTTGTAGTGAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGG...
Task1_train_7333	A variant on Chromosome 3 in gene CASR (calcium sensing receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?	Pathogenic; Familial hypocalciuric hypercalcemia 1	GCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGAT...	GCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGAT...
Task1_train_7334	Assess the clinical impact of this variant on gene CASR (calcium sensing receptor), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; Familial hypocalciuric hypercalcemia 1	CAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAA...	CAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAA...
Task1_train_7335	A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Autosomal dominant hypocalcemia 1	GAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAAT...	GAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAAT...
Task1_train_7336	Here is a genetic alteration in CASR (calcium sensing receptor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?	Pathogenic; Familial hypocalciuric hypercalcemia	GAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGG...	GAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGG...
Task1_train_7337	Given this variant in gene CASR (calcium sensing receptor) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Nephrolithiasis/nephrocalcinosis	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...
Task1_train_7338	A change on Chromosome 3 affects gene CASR (calcium sensing receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.	Pathogenic; Familial hypocalciuric hypercalcemia	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...
Task1_train_7339	This gene mutation involves CASR (calcium sensing receptor) on Chromosome 3. Is it associated with any clinical condition, or is it benign?	Pathogenic; Familial hypocalciuric hypercalcemia	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...	AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG...