chrom large_stringclasses 5
values | pos int64 190k 308M | ref large_stringclasses 4
values | alt large_stringclasses 4
values | AC int64 4 2.39k | AN int64 2.45k 2.45k | AF float64 0 0.98 | MAF float64 0 0.5 | consequence large_stringclasses 11
values | original_consequence large_stringclasses 18
values | seq stringlengths 512 512 | start int64 190k 308M | stop int64 190k 308M | annotation_mask listlengths 512 512 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 6,190,892 | C | A | 356 | 2,448 | 0.145425 | 0.145425 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | CGCAATGCTGCCGTCGGGAGATTGGAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGT... | 6,190,636 | 6,191,148 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,190,913 | T | A | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | TTGGAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGTGTAAATCCATTTCTTAGCACA... | 6,190,657 | 6,191,169 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,190,916 | C | G | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | GAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGTGTAAATCCATTTCTTAGCACAACG... | 6,190,660 | 6,191,172 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,348 | C | T | 16 | 2,448 | 0.006536 | 0.006536 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | CATGACTGCATCGGCCGCGCGCTGGTCCACCGCGCTGGCGCGCCTGGCAGCCGGACTGACGGCCTGCCGGATGGGCGGGCGAGTTTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTG... | 6,192,092 | 6,192,604 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,405 | T | A | 6 | 2,448 | 0.002451 | 0.002451 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | GACGGCCTGCCGGATGGGCGGGCGAGTTTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGT... | 6,192,149 | 6,192,661 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,432 | T | C | 6 | 2,448 | 0.002451 | 0.002451 | grouped_splice_region | splice_polypyrimidine_tract_variant | TTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCA... | 6,192,176 | 6,192,688 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,595 | C | T | 348 | 2,448 | 0.142157 | 0.142157 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | GCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAG... | 6,192,339 | 6,192,851 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,719 | T | C | 670 | 2,448 | 0.273693 | 0.273693 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | AGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCT... | 6,192,463 | 6,192,975 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,722 | T | C | 1,772 | 2,448 | 0.723856 | 0.276144 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | TGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAA... | 6,192,466 | 6,192,978 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,840 | A | G | 1,062 | 2,448 | 0.433824 | 0.433824 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | CCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGC... | 6,192,584 | 6,193,096 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,192,861 | A | G | 1,466 | 2,448 | 0.598856 | 0.401144 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | GCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGCTACTGGTAGCAAGAAACAGGG... | 6,192,605 | 6,193,117 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,193,501 | G | A | 1,124 | 2,448 | 0.45915 | 0.45915 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ATCCACCTTCTAAGATTTCGCAGCGCCAAAGACCAAGCCCACAATCCAGGTAACGACCGATCCAACGACCCAGAGGACAAGAAGGAACACGGTGACACCTGCCAGAATGGTCAGGACAGGTGGGCCATCAGGAGAACTCGAGCCATCGTCACTGGAGCTAGGAGAACCTCTGCCTGAAGCGAATAGGGCTTGCCTGTTGTGCTCCTTCCCAAAGCTTATTGCATTCTGAAACCCATGAAATCTTCTTACGGAAGGGCTGCAACGCCTGCTGTATAAAAATAGCAAGAGTAATAACTGAGAGAATGCAATTGGTGCTCCTT... | 6,193,245 | 6,193,757 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,199,750 | T | A | 1,386 | 2,448 | 0.566176 | 0.433824 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | TTTTATTCTCTAGTGCCTATCTGGAAAACTGCGTCCCTAGGTAACTGAATCCAATCGTGCAATCGGGTTTACAGGGCAGATTGCAACAGCTAAAATCAAGCAAGGCGAGAAAAATTCCCAGCGAATGCGATCGGGTTAAATAGGGAATAGGACGCACCTGCAGCCACGGAGGGCGACGCCGGGGGCGGGGGCTCGGTGCGGGGCCTCGGATGTAGCGAAGGCGCTCGGCTGAAGCCGGCGAGGACAGGGCCGGAGTGTCGGGAGAGACGGAAGAGTGGCGATGAGGTGAGCGGAGATGGCGACCATGGCGAAGAGACGAG... | 6,199,494 | 6,200,006 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,202,392 | A | T | 10 | 2,448 | 0.004085 | 0.004085 | intron_variant | intron_variant | atgactttatttaaagatattttctacaatcctagtcaaacttaagaaagtttgaccagcacggttcccatagcgacagttaaataggtacaaagggagTATGTGCCACAAAAAACATGTGAAACGTGAATGTCATTACCTGACCATTGACAAACCTTGGTGAAATATGCACTGAATTCCCAACAACCACAATGCGTACTATATTTGATGCTATGGATTGCTCCTGAGCGATTTCAAACAAAAATTATCCATATTAGAATATATTGAGTATAATAATTTACACTTTACAAACACAAATAACATACATTCTCGTCACCCAG... | 6,202,136 | 6,202,648 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,204,949 | A | G | 184 | 2,448 | 0.075163 | 0.075163 | upstream_gene_variant | upstream_gene_variant | CtttttttccttttttGAGCGAACCCTGCGCTGCTTGTAGTAGACTGATTGATTAGGCCCAGCCTGGTAAGCGTAAGCCCTTGGAATTTTTGCACCACGGCCCGTTATAACGTCGCAGTCGCCCGGTGGTTCGGAATTCGGATAGCGTATATGGGTGTCTGGTGGACTGGGCACTGTGGTGTCTGGAGAGCGATTGCTTGCCACTCCCACGCACGTGCTACGCGTGTTCTGTACTTCTGTTCTAAATTTTGCGTGAATGATTGTAGTGAAAGGTGCCAATGTTACCTTTCTTCCTTTTTACATGGGACTAGCACAACAGT... | 6,204,693 | 6,205,205 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,223,819 | C | T | 1,576 | 2,448 | 0.643791 | 0.356209 | 5_prime_UTR_variant | 5_prime_UTR_variant | cgcctataaaagccggctcgccccctcccgctcctctcttctcccccatctccatttttctcctcccACTGATTTTGCATTTTAGCCCCTCAGGAAGCTCGGATTTCGGCCCCGCTCCGGCGGACCGCTTCCGTTCGTGCTCTGCTCCGACCGAGCGCGCCGCGCCGTGGGGGGCAGCTGCGAGGACTCTCGTTCGGCGGCTCTGGTTCTCGGCTTGGTCCCGTTTCTTCCCCAACAAATCTCGTAATTTTTCGTCCAGATTTGGCTTCTCGCCGCCCGTCTGGGTCTTTCTCGTGCGTTTCGCCTTTGGTTTCGCCGAT... | 6,223,563 | 6,224,075 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,224,137 | G | A | 24 | 2,448 | 0.009804 | 0.009804 | 5_prime_UTR_variant | 5_prime_UTR_variant | ATTTGGTGCCGGATTCGGTGGGTTGCGGCCGAGTAGCCTGGATCTCGGGCGCGGGTCTAGCGCTAGGAGCCCTCACACTGGGGATTTCCTGCCGGAGGAAGCTTTTCAAGGGAGCTAGCAGCTAGTAGCTAGCTGCCTTTGGGAGCAGTAGCTCTTCTAGTCTCTGAAGGTTTCACCATACGCGGTGGAGAGCGCTATTAGCTTGAGGAGTAGATTTCGTGTAGCGGTGAGCAAAGTTTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGC... | 6,223,881 | 6,224,393 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,224,310 | G | A | 20 | 2,448 | 0.00817 | 0.00817 | grouped_splice_region | splice_polypyrimidine_tract_variant | CACCATACGCGGTGGAGAGCGCTATTAGCTTGAGGAGTAGATTTCGTGTAGCGGTGAGCAAAGTTTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGCCATCCCAGAGGTATGCACTTCCTCCTTTTGGCAAAGCTAGAGTTTCCTTGCTAATTGACTTGCCTTGTACAGTTGTACTGACTAGTATTGATTGCTGATTGAGCCTTTGTCGTGAAATGTCAGGCTGCCGATTTCCTCCCTCCCGGGAAGCAAGCAAGGGCTTTCTTCTAGAC... | 6,224,054 | 6,224,566 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,224,374 | C | T | 64 | 2,448 | 0.026144 | 0.026144 | 5_prime_UTR_variant | 5_prime_UTR_variant | TTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGCCATCCCAGAGGTATGCACTTCCTCCTTTTGGCAAAGCTAGAGTTTCCTTGCTAATTGACTTGCCTTGTACAGTTGTACTGACTAGTATTGATTGCTGATTGAGCCTTTGTCGTGAAATGTCAGGCTGCCGATTTCCTCCCTCCCGGGAAGCAAGCAAGGGCTTTCTTCTAGACGAGCTCTTCTGGTTCCTTAAGTTTGTGGGCCGTGGCTATTTAATCTCCAACTGCATCCCCAGAT... | 6,224,118 | 6,224,630 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,225,155 | A | G | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant | GTCAGGCCACAAGAATGTTGTTTCCATCAAGGATGTATACGAGGATGGGCAGGCGGTGTATATTGTGATGGAGCTCTGCGCCGGTGGGGAGCTCTTTGATCGAATTCAGGAGAAAGGGCATTATAGCGAACAGAAGGCTGCAGAGCTCATAAGAATCATTATTAGCCTTGTGGCTATGTGCCATTCACTTGGGGTTATGCACCGTGATCTAAAGCCAGAAAACTTCCTCCTTTGGGATAAAGAAGATGACCTGTCAATAAAAGCAATCGATTTTGGTCTATCTGTGTTCTTCAAACCAGGTAGGACATCAAATTTGATGT... | 6,224,899 | 6,225,411 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,226,799 | A | G | 20 | 2,448 | 0.00817 | 0.00817 | intron_variant | intron_variant | ACATATTCCAATTAACACAATAATTTGTACATGATAAAAGTGGTCATGGATGCAGCTAGTTTCTTCCATATGAGCTACAGCATTTCCAGGCTGATCACCCTGATTTTGTTCACTTTACACGGGGATACAATGCACTAATTATTCTAGGGTTTGGAGTTCAGTTCAAAATACTGGAATATGCACTGTAACATGTTTGGTTCAATTTTGTTTTGCCTTGGGTGGTATGCATTCTGCAATTGTCAGTTATGTCAATACACGGTGTTAGGTTTTTCTGATACTTTATGTACCTCCAGGTGATAGCTGAACGACTTTCTGAGGAG... | 6,226,543 | 6,227,055 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,228,332 | G | T | 126 | 2,448 | 0.051471 | 0.051471 | 3_prime_UTR_variant | 3_prime_UTR_variant | TCTCTTCTCGTGTTCATCGTTTCTCCACACGACCTGAGAGTTCCGGTCGACATGACATGTATCACGAGGAGAGAGCAAATCAATCGATTCATTTAGTGGTATTTATCCCAAATAAAGTGTGGGCTGGCAGGCAGAATATGGTTTGTCATGAGAGACACTAGTATGGGTTTATATGTATAAATATATAGCAGTGGTGGTATATTGGTTTATGTAGCGGGTGATCCTGTCAAGCGATCCAATCGAAATACCAAAAGTGCGTTCAGTTTGCCCGTTTTGTTACGGGTTTCATGAAGATGAATGTGATTATGTTTTCTCATGTC... | 6,228,076 | 6,228,588 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
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false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,243,249 | C | A | 696 | 2,448 | 0.284314 | 0.284314 | downstream_gene_variant | downstream_gene_variant | GCTTTTAGAACGATTGACTCAGTagatgactcctatctaagttattctcataacaatgaccgaggataaaaagatgaaatggttgagtaatcataaaatgactgagttttattcaattttttccgatgcttgtattttgtagaatgactggcccgctaaataattgttatataagtcattcttatgaatgtctgagtctaaaagatggaatgaccgGGCCGGATAAAACTCTGAGATAAATATATTAAGTGAGATCTAGTTTTAAAGTTTCCGTCGTGACGAACACAATGGTGGAATTGGTTTTCAATTTCGACACTCGG... | 6,242,993 | 6,243,505 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,252,908 | A | C | 252 | 2,448 | 0.102941 | 0.102941 | missense_variant | missense_variant | TCAGTTCTGAATCCACAAGTTTTGCGTTTGGATGCCTTGTGTATGATTCAACCCTTCCACCAGGCAATCTGATAGCAAGTGTCTGAGCCTTAACAGGGTAAGGTGACAGATAGTGAGCACTATCCTGATAGACAACAAGTTGTGCTTCGGCTTGAGTGATTTCTTCTGGGAATGGTTGAAGAGAGTGTGTGAACACAGTCAGAACATCCAAGTACAGAGTCTTTCCTTTTTCCAAAGGTTTGGGCAACAATGCTGAAAAGAATGTCAGCTCCGGGGGAGCTCCAGAAGGTTGAACAACTTCAATTGGCAGAACAGTACTT... | 6,252,652 | 6,253,164 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,253,272 | A | G | 420 | 2,448 | 0.171569 | 0.171569 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | CAAGTTCTTGGCTTGAATATTGGGAAAAGGCAGTAAAACTTGAGAGACAGGGTCTGGTCCAACATTTTCAGCCTAGGCAAGTTGGGAACCATGTAACTTTTAGAGAAACGAAACAAGAACATATTCCACCTAGAAAAGAGCACTTGCAAGAGAGATATTATTCTATAACAAAAACAGAAAAGATCCAAAGAATGTTAAGAATTTCAAGGCTGATACATATACTGCAAGGCATAAACATGATCAAAATATGGAAATATAGATGCCTTAAGAATAGATGTCTATACATAAAACAGAACTCAACAAGCATATCTATAAACTGG... | 6,253,016 | 6,253,528 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,253,379 | T | A | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ACGAAACAAGAACATATTCCACCTAGAAAAGAGCACTTGCAAGAGAGATATTATTCTATAACAAAAACAGAAAAGATCCAAAGAATGTTAAGAATTTCAAGGCTGATACATATACTGCAAGGCATAAACATGATCAAAATATGGAAATATAGATGCCTTAAGAATAGATGTCTATACATAAAACAGAACTCAACAAGCATATCTATAAACTGGTTTAGAAAGCATATGGCTAATTCGTGGAGACAGAGAATTGGGTACATCGAAATTGACAGTAGAAATTTCAGCAGAGGTGACTGGTGAATAGTTGCTGACATTGCAAC... | 6,253,123 | 6,253,635 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,253,822 | G | A | 114 | 2,448 | 0.046569 | 0.046569 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | AACTAGCTCCAAAAATGCTGACCAGGTTTCCCGGGGCAGATAGTTAGGCATGTTTAATTTTTTAGCAGCAAATTGACACCGGTGAATAGACCAGTAGCCATGAATTTATTAGGATAATTCACTCTATGAAACTGCTAGCTTCATCGATACATGGCAGCGTTCTAATCAAGCTGACAAGGCAACAGTGTCATTTCAGACTAGTACGAGACGCATAGTTGGGCAGGCAGGAACGATTCATGAAAACAAGGGAGTGGCGAAGCCAAGCATCAAAACCTTGAGGGAAGCGAGGACGCGAACGATATGCGAGGTCAGATCAACCT... | 6,253,566 | 6,254,078 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,265,768 | G | C | 240 | 2,448 | 0.098039 | 0.098039 | grouped_splice_region | splice_polypyrimidine_tract_variant | GACCCATCTCACTCCAGGGGTGCTCGAGAGGCCCAGGTGCCGCTTCACGAACGACGTCTGGTGCGTGAACCGGAACCGTGAAGGGTCTGCAACGCAAGAACGAACGACCTCGTCAGCTTCGATCACTCTGCTCATGCATCAAGAGCCAATAGGGAGCTGCGTTCTTCTTCTTAGTATTAGTTACCGTTTGCGTACTGGTATTCCAGGGAGTTGGTCTCCGATTCCCATTTCTTCCATTTCCTCATCTGCACGCGCGCGACAAGATGTGGTGAGTGTTTTCTAACACCGTGCGAGAGTCGTCCATTGAATTCAAGATGCTT... | 6,265,512 | 6,266,024 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,279,144 | A | T | 56 | 2,448 | 0.022876 | 0.022876 | synonymous_variant | synonymous_variant | CATGCATAAACACCATTAACATATTACAATCAAAAGTATGCCCTTTAGATGCAAGTATTTCTAAGATACGGTTTATGCAACTCTAAATTTTAGTACACTTGCCTCTGTTTCAGTTTCTTTGTCACCAATATCTCCAATGGTTCGTACATAGTGTCCTGATGGATATCGAGACAAAACATCCCATGAATCAACCGCGACAACAATTCTTTTGTTCACAAGATTCTCAAGCTGCCTGGTTTGAATTCGAATCTTAGGAACTCTTCGATCTTTTGAAACAAATAAAGCATGAGCGACACCCCCACTACCAGCAGGCATGGGCA... | 6,278,888 | 6,279,400 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,365,650 | T | A | 124 | 2,448 | 0.050654 | 0.050654 | synonymous_variant | synonymous_variant | GCTATATACCCCTCGCAAGCTCTCCTCACTCCTCTCCTGTGCCTGCCTCTTCCATTCCTTCTGCTACGCCATTATATGTTTGCAAGCGTCAGAAGTGCATGCTTCTGCGCAGTTGCCCTGTGATGAGGCAACCAACAGCCAAACATCGCTGGCATTCCATTCCACACAGCTCTACTGCATTGTGCTAGTACTAAAAGTTTCTCAGGCTCTGCGTTTGGTTTGCTTGAGATTTTTGGAATCTGCCTTTGGTTTAATTGCTAGATTCTACAGATTCAATTACATACAAGCACATTACCCCTAGGCATAGTAGTATCTACATG... | 6,365,394 | 6,365,906 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,372,642 | C | T | 1,308 | 2,448 | 0.534314 | 0.465686 | missense_variant | missense_variant | aaacgagccgagctaggatgtcagcttagcccgtaaaaaatttaaacgagccgagctgatcaagaaccgagcgatccgacgaaccacaaacattttgtctaggtctaTTTCCAAACCCTGCAAAACTTGCATAAGTCACAGAAACAACACATATGAACTTCCCATACATGTTTTGTTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCaaaaaatttaaataaaaaaCAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGC... | 6,372,386 | 6,372,898 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,372,806 | C | T | 6 | 2,448 | 0.002451 | 0.002451 | grouped_start_stop | stop_gained | TACATGTTTTGTTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCaaaaaatttaaataaaaaaCAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGCAGCAACACCATATCAGAAGCATTGTCGAGCGTGCATATATGTCTCGATCGGCTGGGCAGGGCTAGGTAGTACAACGTACCTGCAGTTGCGCGGCACGGTCCAGGACACCTCGCGCTTCTCCTCGCGCGGCAGCGCCCTGTACCGCCTCCAGTCCTGGAGCATGG... | 6,372,550 | 6,373,062 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,372,817 | C | A | 258 | 2,448 | 0.105392 | 0.105392 | grouped_start_stop | stop_gained | TTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCaaaaaatttaaataaaaaaCAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGCAGCAACACCATATCAGAAGCATTGTCGAGCGTGCATATATGTCTCGATCGGCTGGGCAGGGCTAGGTAGTACAACGTACCTGCAGTTGCGCGGCACGGTCCAGGACACCTCGCGCTTCTCCTCGCGCGGCAGCGCCCTGTACCGCCTCCAGTCCTGGAGCATGGCGTTGAGGTCG... | 6,372,561 | 6,373,073 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,381,562 | A | G | 36 | 2,448 | 0.014706 | 0.014706 | grouped_splice_region | splice_donor_region_variant | ATTCATATAATAGCAATGCATAGAGATTAACGAACAGTACGCATGCAATTGAACAACGCCTCTGATGAAGTAGGGGGCAGTGCAAGCTCACCATCGTTTAGAATGGCGATGACCAGGATCATAAATGGCGAGAAATCAAATTTCCATATCAATGCAATCAGCAAGAATCCGAGCTGCACGTTCACAGTTCATAAGAATTTCAGACAATACTCTCTAGATTCTTTGCAAGGCCTATGTCAAAACaaaaaaaaaTTAACTTACCACAATACGAATAGTGATCGACACCGCGTATATCTGACCAAAAACAAGAGAACGGATTA... | 6,381,306 | 6,381,818 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,477,284 | A | G | 1,074 | 2,448 | 0.438725 | 0.438725 | downstream_gene_variant | downstream_gene_variant | CAACCCCTCGTTGTTTGCGCTCGCCGGAGAAGGCTTCTTGTCCATCCGCGAAGGGAGCACGAATAGTGCAGCAACTTCCGACGACACTCAGGTCGCTCCCGAGGGCAGTGCTGAGCCCAGGAAAGCCTCAGAGACGATGTGCCCCTCAGGAACGTACGGTCGCCTCGGATTGAGAGTTAGAGCGAAGGTCACACGTCGCCACTATAGACCGCCCTAGGGGCAGGGGGCATTCGACTATTCGAGCCTGGAAACAACAAAAGAAACTGTCCccatatcgagtgcttaagcttgatgatatcatactatattttttcatcata... | 6,477,028 | 6,477,540 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,477,930 | A | C | 414 | 2,448 | 0.169118 | 0.169118 | missense_variant | missense_variant | CGGGTCTATTCTATAGCGTGGACAAGGACAGGTCGAGGCTGATCTGGCTCCCCCACGACGTGGCCGCCGTAGGCGAGAGCCGGCCGCCCTCGTCGCCGCTGCTGCGGCTGCTTCTCGTAGCTAGGGACAGCGAGAGCGAGCAGCCGTCCTCCTCCTCGTCGTGGTCGTCTTCTGAACCCGCCGACGACGTCCAGCAGGGATCGCCGCCTGCTTGTTCGGCCACTGCGGGCAGCCTCGGCGGCGTCTCCAGGCCGCAGCGCGCTTCGGCAGAGGCGCCATGAGCGATGAGAGCCGTGCCGACCATCTGCTTGCAAACCTTC... | 6,477,674 | 6,478,186 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,479,671 | C | T | 18 | 2,448 | 0.007353 | 0.007353 | missense_variant | missense_variant | GAGGTGGATGACGAAGCGTGCGCGGAGGCGGAGCACGAGCGCCGGCAGCCATCCCCATGGCCGCTTGCATCATGCGCATGTAGCTGTTGTAGCCACCTGCTGCTGCTGTTGCGAGCGCCCAGCACAGGCCGCCGCTGGCGCTGGGTGGTGATGGTGACCCGTCGCCCTCACATGTTCCTGGGCCTGGGCCTCCTCGCAGCAGCACCCTCTTGGGGCTCGCGCTCCCATCCATCTCCTCCCGCTCACGCCTCCTCCCCGCACCACTGTTGTTTGGCTCCTCCATTGCAAACACACTACACGGCAAGCAAAGCAAcatgcat... | 6,479,415 | 6,479,927 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,480,354 | G | A | 4 | 2,448 | 0.001634 | 0.001634 | missense_variant | missense_variant | TTCCAATGCATGGCAAATGCGGCTGCAGCAGGTCATGGTCATCGTCTGTCATTATCCGGGTCGGGACGCGAATGGATGGCCTCCCTGACGTGACCGATGAGCATATACAGAGaaagaaaaatgagtaaaaaataaaaGGCAGTGACCTTTTCAGTTGGCGTTGGAACAGCGTCGTCGCCTCCTTTCCAGGCTTTGGTGGTGGTGGCGAGCGGCAGACGACGATGCAGCAGCAGGCCGGGCCATCGCACTCATCATGACCGCACTGCGGCTGTCGTCGCTGTGTATCGGCGCAGAGTTCCATATGCATGCCGCCTAGGCCG... | 6,480,098 | 6,480,610 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,482,054 | A | C | 578 | 2,448 | 0.236111 | 0.236111 | missense_variant | missense_variant | TCATGTTCCTGTACATCTGTTCGACACATTCAGAAGAATAAAACTATATTCAGTCAGTAGTGCGCACTCTCATaaaaaaaGGAATATATATACTCCATACTAGTTAGCTATTGTAGATAGGTGAAGGAAAAATGAAGAACAGAATCCAAAGACCAAGAGAGAGGACCTGCAGATGGCTTTTGACATGAGATATGGTGAGTCCTCCCACACCCATCAGCTGCAGGACTCGCTTCGGCGTAGCCTCTGCGACCACGTACAGCATGCAGGTTCAGAGGAGAAACGCGCCCAATATAATCCGGCGCCAAACCAGAGGAAGACGA... | 6,481,798 | 6,482,310 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,482,187 | G | A | 92 | 2,448 | 0.037582 | 0.037582 | 5_prime_UTR_variant | 5_prime_UTR_variant | GAAGAACAGAATCCAAAGACCAAGAGAGAGGACCTGCAGATGGCTTTTGACATGAGATATGGTGAGTCCTCCCACACCCATCAGCTGCAGGACTCGCTTCGGCGTAGCCTCTGCGACCACGTACAGCATGCAGGTTCAGAGGAGAAACGCGCCCAATATAATCCGGCGCCAAACCAGAGGAAGACGAGAGGAATGAAAAGAGAGCAATGCAAGAGAAGATAATCAAGCAGCTAGCAGCAGGAGGCATGCACGCAAGGAAGGAAGCACACATACTGTCCTGGCCTCCGAGCTTGTGGATGGCGTGGACGAAGCAGTGGTGC... | 6,481,931 | 6,482,443 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,514,992 | G | T | 588 | 2,448 | 0.240196 | 0.240196 | downstream_gene_variant | downstream_gene_variant | GAACATGAACAACCGGCGTTCGTTAACATAATAACAAGACAATTAAATGCACCAAAATTAAACATGATGCCAATCTACTAGGTACGGTACGGATCAGCTATAGACAGACGTGGTCGTCATCGATCAGGTCAGGTCAGGGTCAGGTGTCAGGAACACACACAAACAGCAGCCGCAGCAGCAGCGCTGGCACGGCCGGCGTTATCAAAAAGGGACAGCCGGCCGGCCATCGCGCGCGCGGATGCAGGCGGCGGCCTTGCCGAGACCGGTCGACTCGACGCCGCCGCCGTCTCACTGGCCCTGCAGCGACGCCACGAACCGGC... | 6,514,736 | 6,515,248 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,516,096 | T | C | 2,106 | 2,448 | 0.860294 | 0.139706 | 5_prime_UTR_variant | 5_prime_UTR_variant | GCGCCGTCGATCGGGGCGAGGAAGGCCGCGTCGTCGCTGGGAGGGAGGCCGAGGAGGTCGTCGAGCGCGGCGTTGGAGGCGTCCAGCGGGTCGTACACGAAGCCGAGCAGCGCGTCGGTGACCTCGGAGTGAAAGTCGTCATGGAGGAAGCTCATGTCCGGGGCGGGGATGCGGTGTCCGAACAGCGGGGCGGTTGTCGTGTGGAAGCTGAGCGCCATGGGCGGCGAGGTCGGGGGCGGGGGTGGTTGCTTTGCTTTCGCTGCTTGCCCGCTTGCTTGTGTCTGTGTCTCGCTGCGCGAATCAATGGCTCGAAATGAAGC... | 6,515,840 | 6,516,352 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,758,320 | A | G | 2,150 | 2,448 | 0.878268 | 0.121732 | intergenic_variant | intergenic_variant | tttctcttctaggcgagattcaaaggacagaagatttctccaattttgatcacatcattaagctcgattggcgaggatttttcttcgaggattcttgaacgacattgcggcagaaagtgaccctcccttggtgcttcttcctcctgtggctagaaaccacggtccagcttgcagcctcttcatgttgccaacgagaaagctctctctcctaatgatcGCCGCCGTCCCGCAAGAGATGTAAGTAGACATCAAAGTATGGAGAGATGACACGGCAAAGGTCGGCCACCTCTAGGCCAACAACCTTATTGGCAACCGTGAAA... | 6,758,064 | 6,758,576 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,774,646 | T | C | 1,566 | 2,448 | 0.639706 | 0.360294 | grouped_splice_region | splice_region_variant | AACAGGCTAATGAGTCTTCAGGTCAATGGGGATCAACACACACGTTTACAACTAAAGAAAGAGCTTCTATAAACTTACAGTGGCAGACAAACCACTGGCCAAAGCGAGGCCCTCCAGACGAATAGGAAACTTGAGGTCACATGACCCAACTATATTTTGGACCTTGAAATCCTGCATGTCAGAAGAACCCATTGAGTCAATGTGAGAGACCAGCAGCAGCAGGAATCCGATCGATCAGAGTGACAAAAGCATTACTTTGAACCGAGCTGGGGAACCGAGCTTCTGGACGATACGCGCAAACTGCAATGGAGGATAGATAC... | 6,774,390 | 6,774,902 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,778,880 | C | A | 30 | 2,448 | 0.012255 | 0.012255 | 5_prime_UTR_variant | 5_prime_UTR_variant | CACAAGAGCAAGATGCGAACCGAGCCCCCTCTGGCGCGTGGGACACGACGTGCAGCGCTAACGGCTGGCATGCGGCCACCACGCGCCATGAACCCGTCGTCCCACACGCCGCTCCATCGCCTCGCATCCGCCGCCGCAGTCGTCGCTTCGCTACCGTCCAGTGGGGCCGAGTGGCCGACCCATCCACCGGACCACGGTAGACCGGTTGCACGCCCCCAATCGACCCACCTTCTTCTACAAGCCACTCTCCCTCCCCGTCGCATCTCAGTATCTCACTCCCAGTCGCCTCCGCACATACAAATACGCGACGGGAACGGCCA... | 6,778,624 | 6,779,136 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,779,290 | C | T | 10 | 2,448 | 0.004085 | 0.004085 | missense_variant | missense_variant | GTCGCCCCCGGTGGCTCGGCAGCGGCGGCGGTCAGGAGGCGCATGACGTCGCTTGCGCCGGAGCAGGCGCCGTCTGCGGCCGCCGGGTTCCCATTCGCGGCGGAGCAGAGAGCAAGGCGGCCGGTGGCGGCGGAGAGGAACGTGCAGTGGGTGTTCCTGGGCTGCCCCGGCGTGGGCAAGGGCACCTACGCGAGCCGCCTGTCGCGCCTCCTCGGCGTGCCGCACATCGCGACGGGGGATCTTGTTCGCGACGAGCTCGCCTCCACCGGGCCACTTGCTACGCAGGTGAGAGTGAGCCTCCTCTCCGAACCTCTACGGTC... | 6,779,034 | 6,779,546 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,780,833 | T | C | 210 | 2,448 | 0.085784 | 0.085784 | grouped_splice_region | splice_polypyrimidine_tract_variant | TTCCCAACTACTGTGGCACTGTGATAGCATGTACTCTTTTTGTTAGTATGTGGTTACCTTTTCTTTAAGTATAATTCTTGTGATTATTGTGCCTCCTGCAGGAATATTAACTTAATTTGCGGGTACAGATTTGAACATTTTTGCCGCCATTGTTTCTATTTGAACTCATTGATATTGGTGCAACATGTTGTTAGCAGTTGACAGAAACCTGTTCAAGCATGCACTTGATCATGGTGGTTTGAACTAACTACTTCCTCCTCTCAGGAAATTCTTGATGGCGTTACAGACATTGATATGGTGGTTAATCTGAAACTAAGAGA... | 6,780,577 | 6,781,089 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,785,138 | C | G | 1,572 | 2,448 | 0.642157 | 0.357843 | missense_variant | missense_variant | ggttcggggatttttctcggccgggaccatgtttcgatctcttcttaatatagtgccgggagggcggtctttccctcccgggccTACTGATTATACTTCACTTGTCCATTGccccccccccccaaaaaaaaTCAGTTTCTGGCTGCACCCATGGGTAGAATTGTCATCAATTAGGATGCACATAATAAACCCAAGTTTGAAACAGGTACCTGTAACTTTCTCTTTTGCTGGGAGATGAGTCATGCATGCCAAAGCCGGAAGATTTAAATGGACTCCCTGAGGCACTTCTTCCAGCACTGCCAGGACTCCTCACAGATTCA... | 6,784,882 | 6,785,394 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,785,950 | A | T | 1,558 | 2,448 | 0.636438 | 0.363562 | intron_variant | intron_variant | TGCTTATTTCAGGATATGGCTTTGCTAGTATACGTTAACACGTGTAAAAGGTATGAAATCTTTTGTCTCTTTCACAGATTAGTTACTAGTATTGAATTTCTTAAAACACACAGTAGTAAAGTCACAAATATTTTTTAAAACAGTAGCATGGCAAACACTGGATTGCAAAACTCAGCTTGCAACCATGCAGAGTACTCCGATATATAAACAGACAATTGCCAGCTTTAAAAAGTAACCAGACTTCAGGGATGCTTGAGTAATAGCAGAGGAGAATGCAGTGGAAGTATTTAACCTTCATCTTCAAATTTATCCCAGTCTTC... | 6,785,694 | 6,786,206 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,864,112 | A | G | 270 | 2,448 | 0.110294 | 0.110294 | 5_prime_UTR_variant | 5_prime_UTR_variant | TCTCATGTAACTATAACCAGTTTCAAGTACAGCCAGGAGGGACTATACTATAGCAAGTAGCTAGCAGCAAAGTTACCGAGACATGCAAAGAGCAAGAGTAGGTGCCTCAAGTCTCACTTAAGGTCAAAACGAACGAACTGTATGGTGCCGTATTTGTTAGTGACAACAGGGGGTCCTTCATTGTCTGAAAACAGAACAGCAGCGTGCCTGCCTGCTATGCTATGGCGATTGGCGACAGGCAGAAGATgggggggAATTACTCTGACAGAGGCAGGGGCAGAGTACTGGTTGGTATATACGGAAGACTCACCGGAACATCT... | 6,863,856 | 6,864,368 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,864,556 | C | A | 4 | 2,448 | 0.001634 | 0.001634 | 5_prime_UTR_variant | 5_prime_UTR_variant | ATCAAGGGGaaaaaaaGGATATCTTGATTAATaaaaaaaTGTAATCCTACATTCCTATGACCATGCTATAAACTGTAGCGTCCAGCGAGGAATGCAGGATTGCAGGCCTAGTTCATCTGAGAAGGATGGTGGATAGAGAGGATTGGACATTTGGACTGATGATCGCCATACCGTCGCCCTGTCTCCTGTGCGCCCACTTCCTTGAGGTGCTGGCGTGCGAGAAGTCCAGGTACTGCAGCATGGTGCCACCAACCACGGGTGTCCAGCGTGCGCTTCGGTGGCGAGATCAGAGAGGGGTCAGCTGGACGGAAAAGTTTCCT... | 6,864,300 | 6,864,812 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,865,990 | A | T | 112 | 2,448 | 0.045752 | 0.045752 | upstream_gene_variant | upstream_gene_variant | CGAGGACACCAGTTGGTGCAGTGCAGCACCACACGCTTTCGCTGATTTCTCTCCCTCCCCTTCTGCACACACGAACACGAGACACAGGCAGAGGCAGGGGAAGGATCCATTTGGCGGCGTTGCGATAAACTGTCCGTTTCGTGGAACGGATCGCAGTCTCGACCTGTGCTGTGTTTTGTGTTGGCCTCCATCATGTGCTGGGGAATCCGGACGAGATGCTGCCATGTCCTCCTCTCATTAATTATGCATAAATATAtttttttAAACATATCCTTACAATAGATGAATCGAAGCCCTTTTATATAGGGGTATTATTATTA... | 6,865,734 | 6,866,246 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,871,096 | G | A | 208 | 2,448 | 0.084967 | 0.084967 | grouped_splice_region | splice_donor_5th_base_variant | catacttgtaggaaagtaccttcatatgagatgtgctacacatattgtgaatcttattctgcaagatggacttaagaagtggacatttcagtgaagtgtgttcgcgctgctgttagatacaATTTAAACTACTGACAATCTCCAGTATCAGATAACGCATTTCAAAATTCCAAATACCCAAATACACGGTGCTAAACAAATACCAACAATTACCTTATTAATATCAGAATTTAGAACAAGCATAAATGCATAATAGCAACCTGGAAACCTTGCATGAGGAAAGTGGTCCAGTTCTACCGTCGAGCGTGACAACCTCGAAC... | 6,870,840 | 6,871,352 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,986,933 | G | A | 520 | 2,448 | 0.212418 | 0.212418 | 3_prime_UTR_variant | 3_prime_UTR_variant | AAGCACCCTGATCTGGCTTTGCAGCTATGAGCGCGGTAGTAGGCATTGACATAGTTTGGTTTAGTACTGTGATCTGTGACAGAGGCATGAGCTCCTCGAGCACTGCTCCTCCGGGCCTAATTCTCAAGCTTCCGGCACGCTGATAGACATTTGTAGCTTGCCAAGCGGTTGAAGAGGTAACAGATGGTTGGATTGTTGTCAGAGAATAATAACGCAAAGCAGCTGTTGCATGAGGCGGCGGCGGAACACCATGTAGGCCCCCCATTTTAATCATTTGACCCCCAGTGAGTTGTTGTAAAAGGGTAGGGTAGCTTCTGTAC... | 6,986,677 | 6,987,189 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 6,987,254 | A | G | 54 | 2,448 | 0.022059 | 0.022059 | downstream_gene_variant | downstream_gene_variant | GGTTCTAATCTTATTGGAGATGACAGTGTTTCGGATGAGGCGGCCGCCTGTTGTCCAATTTGTAACATTTATAGGAGGAAGTATACAGGCGAAAAAGGCAGTGAATAATTGTGCCTTTTGAAATGTTCGAACGGCCGATTGGCGACATGTTGCTGTTGTTTTGATTTCTTGTGCCTTTTGGGCTCACTCTGTCCACTGGATACGTTGGATGCTGGTGATTGGCATATATATGTAGGTCATGCTCTTGAGCCTTCTACTCGCTGTGATTCTTCTTCGCCTCGGAAATTAGTCACCAGCAAGGGCGCCCATATGGGTGTaca... | 6,986,998 | 6,987,510 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,012,480 | A | T | 1,254 | 2,448 | 0.512255 | 0.487745 | intergenic_variant | intergenic_variant | ATAACTGACCGATCAGCACGGTTTTCTTTTCTGTACACCATACATACCCTGAAGGACCATGGATCGATGGTGTGGTGATGTCGGAGGTTAATTAGACTATCTTAGTCAGTTTACTCAATTCTGTACCTATATGCATGCATGCATCTACTACTACTAGCAGGTGTAGTGTAGTATAGATATATCCCCAAGAGGCCATGACGCATGTCTCGTGTCGTAGTCAGCAATCTTGTAGACCCAAGCTACACATGCATTATTATTACTAGtgtcaagggcctcgacccctaggctaggaggtccgtggctacactaagtagttcgta... | 7,012,224 | 7,012,736 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,017,694 | G | C | 28 | 2,448 | 0.011438 | 0.011438 | missense_variant | missense_variant | CGCCGTGCTTCGTTTCCCTGCCCGCCTTGGCCGTGCATTAATACCCGCTTCCTTGTGATAGtcctctccctccctccctccctccgccctcacttcccactcacctcgcgctcgtcgcctcgGCTGGTTCGGTTCTTGGGAGTGTCAGTCTGCTGCCGGTTGCGGTGACCGGCACCGGCACGTAGACGCAGCACTTCTCGGAGACCATCTGTCTGCGCCGTTCCGATGGGTTGCTTCGGGTGCTTTGCGCCGGAGGTGGATGAGGACCTCAGGCCCTCCAAGCACGACGATTCGTCAGGTTCGTTCTCGGTTTTCCGTCC... | 7,017,438 | 7,017,950 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,031,033 | C | T | 802 | 2,448 | 0.327614 | 0.327614 | synonymous_variant | synonymous_variant | TCGGTGTGGCGGCTTCCCCTCTTTGCCTGGCAGATGCAGGGTATCCACGTCTGGGCCAGTGGCAGTTTGTGCGTCTCACAAACAGTTCTGAGAACGTCAACGATCTCTGGTATGATTGCTCGGTATGAAGTATCAGTCACCTAATAACAAGGAGTAAGCCACATCTGTCACTGATAACAACAACTGAGCGTAACTCTATGATCTCGATATCATTCAGCTTACCTTTGCACGGGAATCACTCGAAACATCAGAGCTCCTGAGATCAACCTCCTGCGCATGAGGAAGCAGAATCTTACTGAGACAAGAACATCACCAAACAA... | 7,030,777 | 7,031,289 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,032,023 | C | A | 42 | 2,448 | 0.017157 | 0.017157 | missense_variant | missense_variant | GGGGCTGGAACACCCAGCCGCGGCGCGGCGGGGTGGGCTGGTCCCTGTTGTCGTCGCCTGACGGCGGCGGCGGCGGGGGAGTTGCCGTGGTGGTTGTGCTGCAGATGTCGAACAGCGGCGAGAAGCAGACCCCCGGGGACTCGCCGCCGGCCCCGGGCTGGGAGAAGTCGGAGAAATCGAAGCCCGGCGCCGCCATAAACAGCTCCTCCATGAGATCCAGGTCGCCGACCGCGACGTCCTCCATGACGCCGCAGGCCAGCAAGCCGCCGCCGCCGTGGGTCTGCGGCGCCTGCTCCATGCCCGGACAAGCAGCACCAGGC... | 7,031,767 | 7,032,279 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,059,969 | G | A | 10 | 2,448 | 0.004085 | 0.004085 | intergenic_variant | intergenic_variant | GGAGCCGTTTGGTTCCCATATTATCGTCCCATTCAGACGAAGCTACTGCTGCATACTATTTGCTTCGATCGGTACGGTGGCATAATTATATGTATATATAGCTAGGGTTTCAAACTGCACTCGTCTGCGGGCATGCGTGCGTGTGCACATTGCATACTACTTGCAGACAGTCGTTTGGTTTGTCTGTCTGTTTGTTTAGGAAAAATTCAGGAGAGGGTGCGAGAGCAGAATgcgcgcgcgcgcgcgcAGGTTGTTGGCGCTTGGCGGCAGCACCCGTGGGCGGCTCACAGCTTGCAAGCAGCACCCAGCTGCATGCGTAC... | 7,059,713 | 7,060,225 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,100,366 | G | C | 18 | 2,448 | 0.007353 | 0.007353 | upstream_gene_variant | upstream_gene_variant | ACGGCCAAGGCCAATGCGTTGCGTTACACGGCTACTACTACTTCGCGACCAGCGCACCCATTGGGGGCGtttttttttttcatttttcttttCTCGTTCCGGGACGGTTCGATGAATAATGCACCaaaaaaaGGGAAGAAAAGACGAGCGTCGTCATGCAAGCATCCACAGCCGAGGCGCTGTTCAGTCCTGCCCACGCTCAACAACCCTATCTATCCCCCCATTCTAAAACAAACAAACAAACAAATGCTTGCGGTGAGCCGTTACGTGAGGAGGAGCTGAGGGCGGCCTGCCTCCATCACCAAGCTAGCACCATTATT... | 7,100,110 | 7,100,622 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,102,262 | G | C | 26 | 2,448 | 0.010621 | 0.010621 | intron_variant | intron_variant | CGGATGGCCGCATGGACCTTCTTGTACAGAGCTTCCATGTCATCGGCTTCAATCCCCTTCTTGATGTACTCGCTGAAGTGAGCCTGGTACTTCTCGGGCTCCTCGTCAGCCAGATTCTGGAATAGATTATCATATCATAtagagaataatactccctccgtttcgttttagttgtcgctggatagtgcaaaattaaactatccagcgacaactaaatagaaacggagggaCTGGGAGTAGTACCAATGGAATTTAGTCAGCCCCCAAATAGAGCACCTGATTTGGGACAGTTACATATTTATGAAATAAACTTACAAATT... | 7,102,006 | 7,102,518 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,129,701 | G | A | 908 | 2,448 | 0.370915 | 0.370915 | downstream_gene_variant | downstream_gene_variant | CTCTCGCTCACCATTAGATTGATAGAAACTCCTTCCTTCACCTCCATGGCTACttgtaatctgtaaacccaaagcaatccaatactcaacaccacacatgatgtagggtgttatgcattcacacagcctcatcgaacagcatatcgacatgcatccgcacgtaccatcgagcaacgatcgacattgccgtcccccccaaaagcactgtgtgggctaccccatagtgctcaatcggtactaaacaccgacaCCACTGACAAGAGGTTGTCTATGTTCGCCAACTCCTTCTAGTTCCACATGAAGTTCGATGACTTCTCGGC... | 7,129,445 | 7,129,957 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,239,307 | G | T | 234 | 2,448 | 0.095588 | 0.095588 | 3_prime_UTR_variant | 3_prime_UTR_variant | GTTCCTATTTCTTTGTGTCTCTGTCACAGCTGCTCTATTCAGTTTTCAGACGAAAATGATCCTTGTCCACATAGAAAATGAtttttttGGTGTGCTTGTACGCATCATCCTACAGCGGCAAACTGCAGGATATAATGTGGTTGTACATGGGCGCCCAAACAAAAAGGTTAGCAGTGTGAAGTGCTAACCGTTCGCCAATCAAACTTCGTTTCTGAACCGGCAGCTGGGTATTGCAATTCACTGTTCGCCATCTAAGGCTTGTTGTACCATCATTTTGCCTGAATGTATTCTTGGTCACCTATTGGTCAATCCGTGTCCAG... | 7,239,051 | 7,239,563 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,242,306 | C | T | 220 | 2,448 | 0.089869 | 0.089869 | grouped_start_stop | stop_gained | tggaatggaggtagtTTATGTTTCCTTTTCTTTGATACCATTGGAAATGACTCTAAGATTCTCCTGTTCATTTTATGCAGCACAGATGATTTCGTATTACAGCCGTATGAAACAGAGATATCAACCGAATCATCCCCATTTGCCATTGCACTGGCTAAACATTTGCACTCTATAGGTGCTAAGATGTATGGAGCATTCTGGTGTTCTCATTGCAATGAACAAAAACAGGTACACACTCTTTCACCTTATCCTAACCGAATACAAAACGATTTCACAGTTGTAGAACATTATTCTGTTGCGAGGGATTGTAGTCTTGTAGA... | 7,242,050 | 7,242,562 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,254,005 | C | G | 6 | 2,448 | 0.002451 | 0.002451 | intergenic_variant | intergenic_variant | AACTAGCAGATGGATGTAAAATTCTCATAAGTGCCTCTGGACTATTATTCGGGATTAAAAAAGAGAGAGTTTCCAAGCGGGAAGGTTGAAACTGCAATTCCGGTGAAAATATGATACTCACAAAAGTTTCATCCTAAAATACAACCCGGGCAGTGCTTTGAATACCCGACGAATAAAACGCAATCACCTTCATCAAGTAATCTCTATCACCTGCGGCGACGGTGGTGCAGTGCTGCCGCCATCAATCACCGCCTGCAGACCCCGACTGCTGCTGCTCGAACTTCTGCACGAGCTCGGTGTCCACGTTCTCGGCGGGCTCC... | 7,253,749 | 7,254,261 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,256,965 | A | T | 596 | 2,448 | 0.243464 | 0.243464 | intergenic_variant | intergenic_variant | GGAACGAGATTTTTATACCGAGAAATCGGTTTTTCCGGCCGATAAATCAATCAGGGCACCCAACCGAGCACAATAAACAGACTTCCGCTGGAAAACACCtttttttATAAACAATAAACATATTTTCATCTTTTTGAAAATTCTCCAAAAATCACTAGAAATACAAATACATTCATGTCATGGGATGAAAATGGATCAACCGCACTGACGAGAAAGTAGGTCCACTAATAACGGCCTAGCTAGGCAGAAATTCATAAGGATGAAAAGACTAGGCCACCTCGATCAACTCTTCTTGGCGAACGGGTCGATAGTCGAGCAAC... | 7,256,709 | 7,257,221 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,287,975 | G | A | 2,012 | 2,448 | 0.821895 | 0.178105 | synonymous_variant | synonymous_variant | AAAATGCTTCTGCTGTAGTGTGAACCATTATTTTTGGGATTTTTAAATGCGTCCCGTAGTTTAGCAATAATGCTTAGTTTTATTCATCTCTAGTAGTAATGGACAAGGCATACCAAAGAGGGACAAAACTGAGTACTGTTACTGGGGACTAGGGACACAAATTTAGAAGTCCtttttttAGAATAGTAGTCACTGAACCATTCAGTGCTGTTTGGCATCTGGAATATAACTTGTATATGGACAGGTGCCTCCGGCGGAGTTGGAAGCTCTTTTGCTAACACATCCAGAAATCGAAGATGTCGCCGTTATACCGTAAGTGT... | 7,287,719 | 7,288,231 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,288,517 | G | C | 6 | 2,448 | 0.002451 | 0.002451 | 3_prime_UTR_variant | 3_prime_UTR_variant | AAACACCACGTCCACTGTGTGTACGCATGCGCGCGTCCACCCGGCTGGAATTTCTGCAGTTTCTCTGACCCGATGCGGTGCATGTAATGTAACATACTAACATTCGCAGGTAGCGCCTTACAAGAAGGTTAGAAAGGTGGCGTTTGTGGCGGAGATTCCCAAGAACGCGTCCGGCAAGATTCTGAGGAAGGATCTCATCAAGCTCGCCACATCCAAATCCAAACTATGAAAATTGTTTTTCGTGTTTACAGTGCTGGAATACGCCTGTCGTCCACGAGCGGCGAGCCATTCTCTACGCTGCCCCGGTAGTTTGGTTGTAG... | 7,288,261 | 7,288,773 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,299,164 | G | C | 1,836 | 2,448 | 0.75 | 0.25 | grouped_splice_region | splice_donor_region_variant | GGTGGTGTATAAAGCAGTCGTCAAGCACAAGCTCCTCCTCTCCCTCTCCCTCGTCTCGCCTGAGCAGAGCCAAGCCCATCCATCGTTCCACACCTCCGCGATACGATGTCCGTCCCTCCTGCCCGActcgccgcgtcctcgctcccgctgctcctcgtctggctccagctccagctcctcctcgcgtccGCCTGCGACCGCTGCGTGCGCCACTCCAAGGCCGCCTACTACACCTCCGCGCTGACCCTCGCCGGTGGGTACCTTCGCTACGCCGACGCCGCCACCGCTTTCTCCTCCTTCTTTACCAATTAATTAATTCG... | 7,298,908 | 7,299,420 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,300,377 | G | T | 938 | 2,448 | 0.38317 | 0.38317 | grouped_start_stop | stop_gained | TCACGGACGTCGCCCAGGAGGGCTGCTTCCCGTGTGACACGCACGAGTGGGAGGAGGAGTGACGGCACCAGCAGAGCAGAGGCTGCAACGGAACTCGCTGAGGACTGGAGCCTGCGGGCTGCGGAGTTGAGTTGCTCTGTCTGCCTCCTCCGTGTCAGTGTCACTCGCTGCCTTTCtttttttGAGTTTTGCCGGAGTGGCACTTTTAACGACGAGAGGAGAGAGCCCCGAAACCCCTCTCCCTCCCCTGTACATGAATTAGCTGCATGCGTCGTCGTCGTTGCCATGGCCGTTGTTTCAACCGGATCACATGCCTCGTC... | 7,300,121 | 7,300,633 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,300,645 | A | G | 544 | 2,448 | 0.222222 | 0.222222 | 5_prime_UTR_variant | 5_prime_UTR_variant | GCGTCGTCGTCGTTGCCATGGCCGTTGTTTCAACCGGATCACATGCCTCGTCGTCGTTGCTTTCTGCCAACACTTAAACACTTGTACTAGTAGGCTAGTAGCTTCGTTATTTATATATATATTCTTCTGACGCGGGCCGGAAGAAACTCTCCATGGCCACCGATCCGTCTGGTGCCAGGACAGAACAAGCGGTGCCGGTGAGCGAGACAGAGAGGCGCCGGCCCGGCGGCGGCACGACTCGCTGTCCGTCTCTGCACCAGGACATTGGGCAGCAAGCGTACGCTTGGCCTTGAGTTGATTATTACTATTCTGATCCTCAC... | 7,300,389 | 7,300,901 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,301,229 | G | T | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | gaatttttgggtttgttggcttggattgaatttttgggtttgttagcttggattaaagccagctttgttcgtactgttccaactataatttgtagagacaaaacattgtaaaattgtagtagaagtcaatatgaattaaagctgagccaacCGGCCGTTTGTTCTCGGGCAAAACGAGCCTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCC... | 7,300,973 | 7,301,485 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,301,400 | G | A | 338 | 2,448 | 0.138072 | 0.138072 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | AAACGAGCCTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCCGCTGCAGAGGAAATGGCTATGCGTTGCTTTCACAACAAGGTCGGGCGTCACGCTTGAGTTGAGTCACTACTGTGTCTTCCTGCTGGTGAAGTTGAGTTTGGTCGCCGCCGACTGAATGAGTGCACCGGTGAGAAGGCTGGGGAGGTGAAGCTTAAGGTCCTTTCTGTgggt... | 7,301,144 | 7,301,656 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,301,408 | A | G | 736 | 2,448 | 0.300654 | 0.300654 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | CTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCCGCTGCAGAGGAAATGGCTATGCGTTGCTTTCACAACAAGGTCGGGCGTCACGCTTGAGTTGAGTCACTACTGTGTCTTCCTGCTGGTGAAGTTGAGTTTGGTCGCCGCCGACTGAATGAGTGCACCGGTGAGAAGGCTGGGGAGGTGAAGCTTAAGGTCCTTTCTGTgggtgtttggtt... | 7,301,152 | 7,301,664 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,332,060 | T | C | 442 | 2,448 | 0.180556 | 0.180556 | downstream_gene_variant | downstream_gene_variant | AGAATCCAtttttttGATATAAAACTTGGTTATGCATGCATGGCAGGGCAATGACGGGCAAAAGAAAGAGAAAATCGCAACTCATCTGCCAGTAACAATCTTTTCATGCGAAAATCTGCGAGATTCTTATCCACAACCAGAAATTGAGCGTAAGGTATGGGCCAGATTCGGATAGAGACCATATAACGTTCCCATAAAGTCCAGCAGCAGTTGGATCGATGCCGCTGTATTTGGACAATGACAGGCTATCCTGATTCAGATCTCTAGTTTGAGCTCCAGCCATGCTGCGATGCAACTGCATTGAGCATTTGCATGTACTC... | 7,331,804 | 7,332,316 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,337,097 | G | A | 10 | 2,448 | 0.004085 | 0.004085 | upstream_gene_variant | upstream_gene_variant | CCGGCGACACGGTCGCCGGATGCGCGGGGCACTGCCTTCTGATGAGTGCTCACGGCGGCGGTTCCGCATCCATCCCGGGGCATCCGCGACGTCCCAGCGTACTGTACAGAATGAACCGCCGCGAACCCATCGACAAACCCGTTGACTCCAGTGTGGGTGCGCCCGTTTGCGTGaaaaaaaaaCAGGCCTCAGATTGAGGCCAACACGTACGGGTACGGGCCCGGAATGACaaaaaaaaaaaaaGGGCACGGGAGGGACGAAGACACCTGGGCAGGAGAGAATCTCGCGAAAGCCAAAACGTGTTTTTGAGCATCACGTCG... | 7,336,841 | 7,337,353 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,341,704 | C | T | 46 | 2,448 | 0.018791 | 0.018791 | intron_variant | intron_variant | CTGTTGCTGTCTGCTGCCTTCTCTACGGGGTACTATTATCTTTATCTAACAAGATGGTGCCTTTATCGCAGCTATCGTTCCAGGAATGGACGCAGCAGATGAGGGACATGCTGGAAGCTAGGAAGCGTGGGGACTTCGCCTTTCGCGATAAAGATTTCAAGGCAGCCATAGATTGCTACACGCAGGTGGCTTCATCTTAGCTATATCAGGAACACTTTGTTGTTCTAGACAACTGCTAGAATAATGCACCCGATTCACTCTGCTACCTCTTCATGCTGCAGTTCGTTGACGTGGGGACGATGGTATCGCCAACGGTGTAC... | 7,341,448 | 7,341,960 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,344,855 | C | A | 60 | 2,448 | 0.02451 | 0.02451 | grouped_splice_region | splice_polypyrimidine_tract_variant | GGGATACTGCCGGGTGAAGGAACAGAAACAGACGGACCCACCCTACTATGGACGAGGACCCATACAGCTAACTCAGTAAGATCAGCAGCACAGACACTCTGCATGCATGTTATTATATATGTTATCCACAGCAGATAGAGTAAAATAGGAGATTTATATTGTATATAACACTGTTTACAAAGTAAAATTTCAAATAGAGAATATGATAGAGGGCGTGATAGGGTATCTACTAGAGAAAACCTAATAACAGGAGCCCATATATGCATGCAGTAAGTACAACTACAGGCTCGCCGGGCAAGCGCTGAACCTGAACCTGGTGG... | 7,344,599 | 7,345,111 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,348,102 | T | A | 938 | 2,448 | 0.38317 | 0.38317 | grouped_splice_region | splice_donor_region_variant | GGCCAGACGTCCCACGAAACCACCGGTACGCATGCCATGCATGCATACAGAATGCCTCAACCTCAACCATTTCCTCTTCGATCGGCCGTCGTCTTCTGACTGAGCTCATCGATCTGCTCGCATGGCTACCGTACGTGCAGGTGGATGGGCGACTGCTCCGGGTGGACCGTTTGCCTGGGGATACTGCCGGGTGAAGGAACAGAACCCGACGGACCCACCCTACTATGGACGAGGACCCATACAGCTAACTCAGTATGATCAGCAGCACAAACACTCTGCATGCGCTATGTATAGGAGTATATGTTAACAGCAGCCCAGCC... | 7,347,846 | 7,348,358 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,348,820 | C | A | 10 | 2,448 | 0.004085 | 0.004085 | 3_prime_UTR_variant | 3_prime_UTR_variant | AAGCCTTACGGAGGATGAGGACGTACGTGGACAACAATAATTATATGGTTGCTGCAAGCCTTCACGTGTTTTTGTTGCCTCTCTACCAACTAAGAATAAATCAAGCTAGCAGCAAACAGGGGCAACCTGCTACCTTCGGCATGTGTCTACTTATCATATAGTGTGTCTATGTATGGCACAGTATCTCATCTCTGGATGCATGATAACGAACTAATCAACGGTTAGCAGCATTCACCTTTACGTTTCCGGTGGTTCCACTTGGCATTTATGACACCAGCAGTGAACAGATGAAAGGAACTATATATATACTAGTGGATGTC... | 7,348,564 | 7,349,076 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,348,858 | G | T | 10 | 2,448 | 0.004085 | 0.004085 | 3_prime_UTR_variant | 3_prime_UTR_variant | AATTATATGGTTGCTGCAAGCCTTCACGTGTTTTTGTTGCCTCTCTACCAACTAAGAATAAATCAAGCTAGCAGCAAACAGGGGCAACCTGCTACCTTCGGCATGTGTCTACTTATCATATAGTGTGTCTATGTATGGCACAGTATCTCATCTCTGGATGCATGATAACGAACTAATCAACGGTTAGCAGCATTCACCTTTACGTTTCCGGTGGTTCCACTTGGCATTTATGACACCAGCAGTGAACAGATGAAAGGAACTATATATATACTAGTGGATGTCGCGCGCCTTGCACGTGATTTAAAATTTGGTTTTTAGAC... | 7,348,602 | 7,349,114 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,401,188 | G | A | 14 | 2,448 | 0.005719 | 0.005719 | synonymous_variant | synonymous_variant | CCAGAACAGACATCCAATGCTGTTCCTCCCCTTGTTGTTCGCTGGGATGCCGATATCGACGTACCGCATGGGAGAGTCAGTGTCACAGAAGGCAATGGTTGGGATGTTCCCCAGAGCAGACTCCTTGATTGGCTGCAAACGATTACCAGCATAACAATTAGTTCACCATCACACTGCAGGGTCCACTCAGTAAGTACTTCAGAACTTTGAAACTGAAACTATTGTCACCTGATGGTCAGTCCTTGGGTCAGTAAGGATGAGCAGTCGAGGCTCGCTGAAGGAGGTCTGGAGCTGATTAGTGAATGTACCAGGGGTGTGCC... | 7,400,932 | 7,401,444 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,433,617 | C | A | 184 | 2,448 | 0.075163 | 0.075163 | grouped_start_stop | stop_gained | CACCGTGACCGTCGTGGCGTCCGCGGCCTCCGTCTTGGCCTCCCTGGGCGCGGCCGCGGGCGCGCCGTAGCTGTCGCCCGACGGCGCGGGAGATGACGAGGACGGGAACTGCAGGAAACTTGTGTCGTAGGTGTCGTCCGACGACAGGTAGTCGTCGCCGGTGGAGCCGGCGGCCTGGACCAGGGATGTTGCTGTGGCCCCGCCGATGCGCCTCTGCATCTCCTCCATGGCAGAGGCCCTCTGCTCGAGCTCCTTCAGTGGCGTGGCCTTCCTGTAGATCTTGCAGATCACCATGTCCTCCTGCGGAAGCACGCAAGCGT... | 7,433,361 | 7,433,873 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,497,059 | C | T | 54 | 2,448 | 0.022059 | 0.022059 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | gcttgttcgctgcggctttaatccgactgcggctgcggcttctacagtattttatctctagggattgcagctgcaacagtattttgcagctgcaacagtgctcccacatgggcagccgaacaagccATAGGATGCCTCCGAACCCAACGCACGCGGGGTCAAGCGTCAATGCTTATCCGCTCTTGCCGAGCCTGCTGGCACGGAAAGCAGAAGAGGACGTGCCGCACGCATCTGCATGAGCATGACATGAGCACGCATCCGCCGTGCCGAGTCACCGACCCCGCGGTCGGCGTCAGCTGGGATTGTGGGaaaaaaaaaGG... | 7,496,803 | 7,497,315 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,497,098 | A | G | 366 | 2,448 | 0.14951 | 0.14951 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ttctacagtattttatctctagggattgcagctgcaacagtattttgcagctgcaacagtgctcccacatgggcagccgaacaagccATAGGATGCCTCCGAACCCAACGCACGCGGGGTCAAGCGTCAATGCTTATCCGCTCTTGCCGAGCCTGCTGGCACGGAAAGCAGAAGAGGACGTGCCGCACGCATCTGCATGAGCATGACATGAGCACGCATCCGCCGTGCCGAGTCACCGACCCCGCGGTCGGCGTCAGCTGGGATTGTGGGaaaaaaaaaGGTGCGGCGGCCCCGGCGGCCGGCACCGTCACGCCGGGGGA... | 7,496,842 | 7,497,354 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,497,367 | T | G | 1,290 | 2,448 | 0.526961 | 0.473039 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | GaaaaaaaaaGGTGCGGCGGCCCCGGCGGCCGGCACCGTCACGCCGGGGGAGGATAGTGTCCTCGGGCGCCTCGGCGAAGCTGAGCCACGAGGTACCTCAGCGACAACAACAACTGATCGTGCCTCGCCTGCCACGTGTGAGGCGGCCCGTGCCCGCGTCGGCGTGGCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTTCCCTTTCCACGTAAAACTGTGCCGGCGGAGCCCGGAGCCTGATCCGGTCTCTGCCGCCACGTTGGCCCAGGGCGCCTTGTCCACATGTTCCGCGTCGCGTGGAGCCACGTCGGAGG... | 7,497,111 | 7,497,623 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,497,533 | G | C | 12 | 2,448 | 0.004902 | 0.004902 | upstream_gene_variant | upstream_gene_variant | GCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTTCCCTTTCCACGTAAAACTGTGCCGGCGGAGCCCGGAGCCTGATCCGGTCTCTGCCGCCACGTTGGCCCAGGGCGCCTTGTCCACATGTTCCGCGTCGCGTGGAGCCACGTCGGAGGTGACGCCGCCAAGTACTCCAACTTGCAAGCGCCTTTTGTACTGGCGTGTCGGGGTAACGTGGTGTGCAGTGTGCTACTGTGCTGTACTGCTACATCATTTCGAAATGAGTAATTTGTGCGTCCTCGGGAGGAAAACTTGTCGCGTGCGTCAGACACAAGCCCCGAA... | 7,497,277 | 7,497,789 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,503,948 | C | T | 6 | 2,448 | 0.002451 | 0.002451 | intron_variant | intron_variant | TCTGTCACAAACTCATGACTGATTTTTCAATGCGCTAAATTACAAAACATTAGGTGCGGAGAAATCTGGGAGGAATGCTGAAGGAGATTCTTGGTGGGAGAAATGGAAAGAAGTTCTGTACCAAGACGAATGGAGGTAATTTAGCTAATTTGTAGATTCAGATATTTTAAGTATACCTGTCCTGCTCTTGTTTAAGACAGAAGGTTTATTCTCCAATGCAAGCTTAACTGACCGTTTATGTAACAAAGAGTTGTGCACAGACTTTCTTTCAGCCTTGTTTTGTTAAGGCTACCTTGAAATCAATGCTGATTCTGTAGCTC... | 7,503,692 | 7,504,204 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,506,104 | C | A | 172 | 2,448 | 0.070261 | 0.070261 | grouped_splice_region | splice_polypyrimidine_tract_variant | cctgcttatagattatcataatctaaggtatctagattacataatccaccgaataatctgtgttgtttgtttacctctcaacttatttaagctgtattatataatctagagggtaagcaaacatggccGGAGTGCAGAATTTTCCCGGCATCATCATGCAAATGATTTTATCTTACATATTGATACTAGTAGTAAATCGTTTTGGAGTCGACTATTCTGTCGCTAATTCTGCTACTTCAAAACTAAACCATATATCTCTGTCTGGATTTCAGAAAAGTCCACAAGTATGGAAAGAGCACAACCGGCGAGAGGTGGGACTT... | 7,505,848 | 7,506,360 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,506,460 | T | G | 616 | 2,448 | 0.251634 | 0.251634 | grouped_start_stop | stop_lost | TCTGTTCCGGCGATCGATTCCCTGAAACGTCTCCTCGACGCTAAAATCGCTTCTGAATCTCACTGTCACCGGACTGCAAACATTTGAACCAGGGCGGAGCCCCATTACGGATGGGCCGATGTCGTCGGAGACTCGACGCAGCTGCTGTCCATACAGCCCGTGGAGAGGCCACCCGGCGTGTTCCCGGCCATCGACTTCAGCTCCGCGCCGCCGCCGAAGGACGCTCCGCCGGGCATGCCCCCTTCTCCTCTGGACTGAGTGAATTAGGCCTGCCAGCACAGACGGATTTTTCTGTCTATATAGGCTCCAGATTTTGCCTG... | 7,506,204 | 7,506,716 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,507,831 | C | T | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant | CCAGGAGATCGCCACCGCCAACAACATCACCAACGTCAACCTCATCGTCGTCGGGCAGAAGCTCAGGATCCCGCTGCCCTGCACCTGCGACCAGGTGGACGGCGCCGACGTCATGCACTTCGCCTACAGCGTCGCCAAGGGGGACGACCCGCCCGGCATCGCCGCCAGGTTCGGGGTCACCGAGACCACGCTGCTGAGTGTGAATAAGATCACCGACCCCAAGACCAGCCTGCAGCAGGGGCAGATCCTGGATGTCCCCCTCCCTGGTAAGCGtcttcctcttcctcttcctcttcTTACGCCGCAATCCATACCTAGTT... | 7,507,575 | 7,508,087 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,508,555 | C | A | 114 | 2,448 | 0.046569 | 0.046569 | intron_variant | intron_variant | GGTGGAGCGTTTAGACAAGTCGCTATCGGTTCATCCTGCGCGCTAGGACAAGTCCACCGATTTGAATTATTCAAGAAACCACAGCTCATATTCGTCCTAAGAGATCAACTTTTCATTCATAATCTGTTATACGTTGCTATCACCGTGCGAATTGTCTGACTCCGTGTCTGAACCCTAATGAACATGCTATTAGCACAGGACCGCTCACAAGTCTCCGTGCAGTTTACTTTTTTGACTATTACCATAGATACTTGGCCACATCCTTTTTGACTACTGCTTCATTATCCCTCTGTTTACTTTTTTGTTCTATGGTAATAGCA... | 7,508,299 | 7,508,811 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,508,680 | C | G | 122 | 2,448 | 0.049837 | 0.049837 | grouped_splice_region | splice_region_variant | GTTATACGTTGCTATCACCGTGCGAATTGTCTGACTCCGTGTCTGAACCCTAATGAACATGCTATTAGCACAGGACCGCTCACAAGTCTCCGTGCAGTTTACTTTTTTGACTATTACCATAGATACTTGGCCACATCCTTTTTGACTACTGCTTCATTATCCCTCTGTTTACTTTTTTGTTCTATGGTAATAGCAAAAGTGATCTCGCAGTCCCGTCTCCCGTCAGTACTGACTGTTCGTGCAAATTCTGTGCTTCCAGTGTGCAAGTCATCGGTCGGCAACGCCTCGGCTGACTACAACCTGCTCGTCCCGAACGGCAC... | 7,508,424 | 7,508,936 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,511,697 | G | T | 12 | 2,448 | 0.004902 | 0.004902 | 5_prime_UTR_variant | 5_prime_UTR_variant | CGCGTGTGAGACTGAGAGATGGCCAGATGTGGCAGGTGCTCCTTCGGATCAAGCGCAACGCGACCCAATGTGGATGACGAGGTGATTAACGACATTAGAAGATGACGAGGGAGCTAGTCATCTTTGGACGCTTAGGTGTCCGGTTGGATCAGTCACATTTCGTGTGCATTTGTCAAGTGCTTGTGCTCATTATATTAGAGTAGTCATCAGTCATCACTGAGCCTGACTGAGGCGAAAACAAACGGGACATTTGTAGTACGAACCTAACCTGCACGGCATCATGCAAACGGCGTCGACTTCTTCTATATGGCCAGATGCAT... | 7,511,441 | 7,511,953 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,540,341 | G | T | 22 | 2,448 | 0.008987 | 0.008987 | upstream_gene_variant | upstream_gene_variant | agaattaatattatatctaaattatgattatgatttattattattgttggtttaattattgtcattgataatattaatttgttaattgggaatggagaaccacacgaaagtgatgagaataaggtgaagtaggacgcccttgCCCGTGGCTGATCGCGCGGAATGGGTCAATGGGAGGAGTGCACGAGAATCCAAATGGGGAGTAGAATATGTGCACTTGTGCAGGCTGATCCGCTGATGCTAGAGCTGTGATGTGATCGGTGATCCGATGCTAATACTATTATATTAGCAGCTCATCTGTACTATTCTGTTAGCAGCTC... | 7,540,085 | 7,540,597 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,653,622 | T | C | 262 | 2,448 | 0.107026 | 0.107026 | upstream_gene_variant | upstream_gene_variant | tgtcccatcgaatgtttgaacctccgttccgggtattaaatgtagtcggattataaaactaatttgtcagccgaaaattaaaagacgagacgaatctagtccagttggttGGGTctatatttcatactcctatttaaaagtcaaacgcttgatgtgacccgggctaaactttagcaggagcaaccaaacacccCCTGAGGATGGTGGGGAAATTCTGAGCAGGAAGGTATTCAGCCTAGAGGCTAGATCCCATGCTGAGTACACAACTTTTTTACAACtttttttACATACTGTGTGTTGGGACGATATATAAATCTTTG... | 7,653,366 | 7,653,878 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,780,479 | C | T | 924 | 2,448 | 0.377451 | 0.377451 | missense_variant | missense_variant | TGCGGGACTCGAACATGCGGCGGGAGCGCGGGTCGGAGACGAGGTGGTCCGCGTAGGGCAGGTGCGACAGGTCGGCGATGGTGAAGTTGTCGCCGGCCAGGAACGTGGCCTCCTCCAGGCGCTGCTCGTAGATGTCCAGCAGCTTCTCCAGGTCCTTCTTCCTCTGCTCGAACAGCTTCAGCATCTCCTCCTCCTTCTGCGCGCTCACCTTGGTCTGGCTCGCCGCCGGCTGTGACCCGGCCACACCGCGCTTGCCGCTGGACGCGTCGGCGTTGCTGCCTACGGTGGCGTCCCTGGCGTTGAACGCGCCGCCGTTGCCG... | 7,780,223 | 7,780,735 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,780,754 | T | C | 144 | 2,448 | 0.058824 | 0.058824 | grouped_splice_region | splice_polypyrimidine_tract_variant | CTGCCTACGGTGGCGTCCCTGGCGTTGAACGCGCCGCCGTTGCCGTTGTCGTTCTGCTTGGGCAGGGTGGGCGGCAGGAAGGCGAGGCTGTAGACCATCTCGGCGCTGGGCGCGTCGAAGCTCTGCGCCTCCGTCTGCAGCCACTGCTCGATGGACGCCCGCTCCAGCGCGCCCGTGCCAATCAGGTACGGGTTGCCCTGCTTCGCGTACTTGTGGGAGATGTGGCGGAGGATCCCCCTGGAGTCTGCAGCAAGGTAACGTTCAACGGCCGGTGAATGTCAGCGCCATTGCTGCACTGCACCACTGCACCACGTACGCAT... | 7,780,498 | 7,781,010 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
1 | 7,812,929 | C | T | 70 | 2,448 | 0.028595 | 0.028595 | downstream_gene_variant | downstream_gene_variant | gtgcttttggtgtcttagatgtccgagttgaactgttaggaacaataacaagattccctcaatgtaaagaatttttattggttctcattcacccccctctttggtcgcatatttgatccttcaCTCTCTATGTAGAGCGGCAGTGTTGCTCCTCTAGCTGGCGGTGCCGGGTCATTGTAGTGCTGCTCATAGGCACAATTGTGCCGCTTGATTAAAAGGTCTCCAATTGAGATGAAACTTCTATGAGCAATGCATCAGAGAAGAAATCAGTTGGTTCGAGAAGTATGAGCTCCAAATGATCACCCCTTTAGAAATAGATT... | 7,812,673 | 7,813,185 | [
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
false,
f... |
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