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morrislab
/
utr-variants-bohn

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biology
rna
genomics
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transcript_id
string
gene
string
chromosome
string
sequence
string
cds
sequence
splice
sequence
target
int64
description
string
NM_020451.2
SELENON
1
CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGGTCAACTCCCGCGGCCAGCTGCGAGGAGGAGGAGTTGCCCCCTGACCCTAGCGAGGAGACGCTCACCATAGAAGCCCGATTCCAGCCTCTGCTCCCGGAGACCATGACCAAGAGCAAAGATGGCTTCCTAGGGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCCCCCCCAGATCAGGGCCTGGGTGAACTCCCTGGACCTTTCCTAGCCAGCCGCACAGTCTAGGCCCTTGTGGGGTGAAGAATGGAGGGAGGAGCAGGCTAGGAAGACGGGGCCACCACCCTCTCCTTGCTTTCAGCCCTTCCCACAGGAAACATCAAGAAGCCCCAGCCAGGAGGGGCCAGGCTGCCAAGGCGGCTCCCCTGTTTATCTAGAGCCTTCGTTCCTGGCCATACCCCGGACTGCCCTCCTGTGCCTGATGTCCCCAGCTGGGGTCAGTCTCAACAGGAGCCAGTCTTCTGGAGCCTCTGGGCAGAACCCTCCATCAGAGTGGAAATCAGACGGGACCCCCTGCAGCTTCCCTGACCACGCCACTGACCAGCTATCTGGGGAAGTTTACTGTGAAGGGGTTTCTGCCTTTAGCAATGGGGTTCACTAAGGGGGTTCCCGAGGCCCAGGGCCAAGGCACTCCCACCGCCTACCTTAGCACAGGGTCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTCTTGCCCCTCAGACCTTGCATCCACAGAAGCACAACCCAGCCAAACACCACAGCCTTCTCCAGAGCCGGCACTGTCCCGGCAACCAGGGGTGCCCCAGGCTAGCTCTTCTACCTCTGGGGCACCACGGACTCCCCTTGGCCACTCTTGGGACTTTGGTCCACGTCCTGAGCCACTGACCACGGCCAGTCTCTCTTTTTATATGTGCAGAAAAGTGTTTTTACACAAACTTTCTCATGGTTTGTAGGTATTTTTTTATAACCCCAGTGCTGAGGAGAAAGGAGGGGCAGTGGCTTCCCCGGCAGCAGCCCCATGATGGCTGAATCCGAAATCCTCGATGGGTCCAGCTTGATGTCTTTGCAGCTGCACCTATGGGAAGAAGTAGTCCTCTCTTCCTTCTCCTCTTCAGCTTTTTAAAAACAGTCCTCAGAGGATCCATGATCCCCAGCACTGTCCCATCCTCCACAAAGGCCCACAGGCATGCCTGTACTCTCTTTCATTAAGGTCTTGAAGTCAGGCTGCCCCCTCCCCAGCCCCCAGTTCTCTCCCCACCCCCTCACCCCACCCGGGGCTCACTCAGCCTGGCAGAGGAAGAAGGAAGGCAGACATCTCCGCAGCCACTCCTGGGCCTTTTATGTGCCGAGTTACCCCACTTGCCTTGGGCGTGTCCACTGAGCCTTCCCCAGCCAGTCTTGTTCTCAATTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTATGGCTCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGATCTGGAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAATCGTGCCCAGCCTTGTTCTTAATTTTGTATCATCCAGTCATCGCTAATATTACACGCACCTTCTCACTTAATCCTCACGACAAGCCTGTGAGGCAGATGCTCATTGTTCCCATCTTGATGAAACTTGAGTCTCAGGGAAGTGAAGTGACTTGCCCAGGGTCACTCAGGTAGAGTTGAGATTCAAACCCACATGTGGCTCCAAAGTCTGCATCTGGATTTGGGGGTGTTTTTTGGCATGGCACCCTCACCTCTCTCCCTGCCTGTTTTCCCCAAAGTGGAAAGGAAGGCCTTTCAAACCAGAGTGTCTCACTCCCCTCTGACCTCCAGACCAGATGGGGCATGAGCCAGCCAGCTCAGCCAGGCTCCCTGTGTCCTGGGAGGAAGTGTCCCCATCCCCCATGCCCCTTATGGGGAGGGAGGGCGTCTGATGCTCTCTCTCTGCCTCCCCCCCCATCCTGTCAGGCACAGGTGACGGGGGCAGCCCATGCGAGCCCTTCTCCTGCTGCTCTGGGAGGGCCAGTTCCACATTGAGCCAGCCTGGTCCCATGGAAAATGATGGCCTGGGCTTTCTGAGGCCTTATCTGATGCCTCTGCAGTTCATGTCCCCCACCAGGCCTCGAGGCTCAGGGTGGGAGAGGGCCCCGGGCTGCCCTGTCACTCCTCTAACACTTCCCTCCCCTGTCCCCAACATGCCCTGTAATAAAATTAGAGAAGACTAAC
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0, 0, 1 ]
0
wild-type
NM_020451.2
SELENON
1
CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGGTCAACTCCCGCGGCCAGCTGCGAGGAGGAGGAGTTGCCCCCTGACCCTAGCGAGGAGACGCTCACCATAGAAGCCCGATTCCAGCCTCTGCTCCCGGAGACCATGACCAAGAGCAAAGATGGCTTCCTAGGGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCCCCCCCAGATCAGGGCCTGGGTGAACTCCCTGGACCTTTCCTAGCCAGCCGCACAGTCTAGGCCCTTGTGGGGTGAAGAATGGAGGGAGGAGCAGGCTAGGAAGACGGGGCCACCACCCTCTCCTTGCTTTCAGCCCTTCCCACAGGAAACATCAAGAAGCCCCAGCCAGGAGGGGCCAGGCTGCCAAGGCGGCTCCCCTGTTTATCTAGAGCCTTCGTTCCTGGCCATACCCCGGACTGCCCTCCTGTGCCTGATGTCCCCAGCTGGGGTCAGTCTCAACAGGAGCCAGTCTTCTGGAGCCTCTGGGCAGAACCCTCCATCAGAGTGGAAATCAGACGGGACCCCCTGCAGCTTCCCTGACCACGCCACTGACCAGCTATCTGGGGAAGTTTACTGTGAAGGGGTTTCTGCCTTTAGCAATGGGGTTCACTAAGGGGGTTCCCGAGGCCCAGGGCCAAGGCACTCCCACCGCCTACCTTAGCACAGGGTCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTCTTGCCCCTCAGACCTTGCATCCACAGAAGCACAACCCAGCCAAACACCACAGCCTTCTCCAGAGCCGGCACTGTCCCGGCAACCAGGGGTGCCCCAGGCTAGCTCTTCTACCTCTGGGGCACCACGGACTCCCCTTGGCCACTCTTGGGACTTTGGTCCACGTCCTGAGCCACTGACCACGGCCAGTCTCTCTTTTTATATGTGCAGAAAAGTGTTTTTACACAAACTTTCTCATGGTTTGTAGGTATTTTTTTATAACCCCAGTGCTGAGGAGAAAGGAGGGGCAGTGGCTTCCCCGGCAGCAGCCCCACGATGGCTGAATCCGAAATCCTCGATGGGTCCAGCTTGATGTCTTTGCAGCTGCACCTATGGGAAGAAGTAGTCCTCTCTTCCTTCTCCTCTTCAGCTTTTTAAAAACAGTCCTCAGAGGATCCATGATCCCCAGCACTGTCCCATCCTCCACAAAGGCCCACAGGCATGCCTGTACTCTCTTTCATTAAGGTCTTGAAGTCAGGCTGCCCCCTCCCCAGCCCCCAGTTCTCTCCCCACCCCCTCACCCCACCCGGGGCTCACTCAGCCTGGCAGAGGAAGAAGGAAGGCAGACATCTCCGCAGCCACTCCTGGGCCTTTTATGTGCCGAGTTACCCCACTTGCCTTGGGCGTGTCCACTGAGCCTTCCCCAGCCAGTCTTGTTCTCAATTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTATGGCTCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGATCTGGAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAATCGTGCCCAGCCTTGTTCTTAATTTTGTATCATCCAGTCATCGCTAATATTACACGCACCTTCTCACTTAATCCTCACGACAAGCCTGTGAGGCAGATGCTCATTGTTCCCATCTTGATGAAACTTGAGTCTCAGGGAAGTGAAGTGACTTGCCCAGGGTCACTCAGGTAGAGTTGAGATTCAAACCCACATGTGGCTCCAAAGTCTGCATCTGGATTTGGGGGTGTTTTTTGGCATGGCACCCTCACCTCTCTCCCTGCCTGTTTTCCCCAAAGTGGAAAGGAAGGCCTTTCAAACCAGAGTGTCTCACTCCCCTCTGACCTCCAGACCAGATGGGGCATGAGCCAGCCAGCTCAGCCAGGCTCCCTGTGTCCTGGGAGGAAGTGTCCCCATCCCCCATGCCCCTTATGGGGAGGGAGGGCGTCTGATGCTCTCTCTCTGCCTCCCCCCCCATCCTGTCAGGCACAGGTGACGGGGGCAGCCCATGCGAGCCCTTCTCCTGCTGCTCTGGGAGGGCCAGTTCCACATTGAGCCAGCCTGGTCCCATGGAAAATGATGGCCTGGGCTTTCTGAGGCCTTATCTGATGCCTCTGCAGTTCATGTCCCCCACCAGGCCTCGAGGCTCAGGGTGGGAGAGGGCCCCGGGCTGCCCTGTCACTCCTCTAACACTTCCCTCCCCTGTCCCCAACATGCCCTGTAATAAAATTAGAGAAGACTAAC
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1
chr1:25816825:T:C,Impact on secondary structure
NM_014017.3
LAMTOR2
1
GGTGGGGCGGGGTTGAGTCGGAACCACAATAGCCAGGCGAAGAAACTACAACTCCCAGGGCGTCCCGGAGCAGGCCAACGGGACTACGGGAAGCAGCGGGCAGCGGCCCGCGGGAGGCACCTCGGAGATCTGGGTGCAAAAGCCCAGGGTTAGGAACCGTAGGCATGCTGCGCCCCAAGGCTTTGACCCAGGTGCTAAGCCAAGCCAACACTGGAGGCGTCCAGAGCACCCTGCTGCTGAATAACGAGGGATCACTGCTGGCCTACTCTGGTTACGGGGACACTGACGCCCGGGTCACCGCTGCCATAGCCAGTAACATCTGGGCCGCCTACGACCGGAACGGGAACCAAGCGTTTAATGAAGACAATCTCAAATTCATCCTCATGGACTGCATGGAGGGCCGTGTAGCCATCACCCGAGTGGCCAACCTTCTGCTGTGTATGTATGCCAAGGAGACCGTGGGCTTTGGAATGCTCAAGGCCAAGGCCCAGGCTTTGGTGCAGTACCTGGAGGAGCCCCTCACCCAAGTGGCGGCATCTTAACGGCATTGGTGGAAGCTGGGGTCAGAAAAGAGAAATGACCATTTGGAGGGGCGGGGCCTCCTAGAAGAACCTTCTTAGACAATGGGGGGAGGATGGGACTTTGTTTTTTCCAAGAATAAACTTCAACTCCTGTCATGTG
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0
wild-type
NM_014017.3
LAMTOR2
1
GGTGGGGCGGGGTTGAGTCGGAACCACAATAGCCAGGCGAAGAAACTACAACTCCCAGGGCGTCCCGGAGCAGGCCAACGGGACTACGGGAAGCAGCGGGCAGCGGCCCGCGGGAGGCACCTCGGAGATCTGGGTGCAAAAGCCCAGGGTTAGGAACCGTAGGCATGCTGCGCCCCAAGGCTTTGACCCAGGTGCTAAGCCAAGCCAACACTGGAGGCGTCCAGAGCACCCTGCTGCTGAATAACGAGGGATCACTGCTGGCCTACTCTGGTTACGGGGACACTGACGCCCGGGTCACCGCTGCCATAGCCAGTAACATCTGGGCCGCCTACGACCGGAACGGGAACCAAGCGTTTAATGAAGACAATCTCAAATTCATCCTCATGGACTGCATGGAGGGCCGTGTAGCCATCACCCGAGTGGCCAACCTTCTGCTGTGTATGTATGCCAAGGAGACCGTGGGCTTTGGAATGCTCAAGGCCAAGGCCCAGGCTTTGGTGCAGTACCTGGAGGAGCCCCTCACCCAAGTGGCGGCATCTTAACGGCATTGGTGGAAGCTGGGGTAAGAAAAGAGAAATGACCATTTGGAGGGGCGGGGCCTCCTAGAAGAACCTTCTTAGACAATGGGGGGAGGATGGGACTTTGTTTTTTCCAAGAATAAACTTCAACTCCTGTCATGTG
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1
chr1:156058394:C:A,Impact on polyadenylation signal
NM_000210.3
ITGA6
2
TTGATAAAACGCCTGCGAGTCTCCAGAGAACAACGGGCTCATTCAGCGGTCGCGAGCTGCCCGCGAGGGGGAGCGGCCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGCGCAGCGGCGAGAGGAGGCGAAGGTGGCTGCGGTAGCAGCAGCGCGGCAGCCTCGGACCCAGCCCGGAGCGCAGGGCGGCCGCTGCAGGTCCCCGCTCCCCTCCCCGTGCGTCCGCCCATGGCCGCCGCCGGGCAGCTGTGCTTGCTCTACCTGTCGGCGGGGCTCCTGTCCCGGCTCGGCGCAGCCTTCAACTTGGACACTCGGGAGGACAACGTGATCCGGAAATATGGAGACCCCGGGAGCCTCTTCGGCTTCTCGCTGGCCATGCACTGGCAACTGCAGCCCGAGGACAAGCGGCTGTTGCTCGTGGGGGCCCCGCGGGCAGAAGCGCTTCCACTGCAGAGAGCCAACAGAACGGGAGGGCTGTACAGCTGCGACATCACCGCCCGGGGGCCATGCACGCGGATCGAGTTTGATAACGATGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGACATGTGCTCACCGATATGAAAAAAGGCAGCATGTTAATACGAAGCAGGAATCCCGAGACATCTTTGGGCGGTGTTATGTCCTGAGTCAGAATCTCAGGATTGAAGACGATATGGATGGGGGAGATTGGAGCTTTTGTGATGGGCGATTGAGAGGCCATGAGAAATTTGGCTCTTGCCAGCAAGGTGTAGCAGCTACTTTTACTAAAGACTTTCATTACATTGTATTTGGAGCCCCGGGTACTTATAACTGGAAAGGGATTGTTCGTGTAGAGCAAAAGAATAACACTTTTTTTGACATGAACATCTTTGAAGATGGGCCTTATGAAGTTGGTGGAGAGACTGAGCATGATGAAAGTCTCGTTCCTGTTCCTGCTAACAGTTACTTAGGTTTTTCTTTGGACTCAGGGAAAGGTATTGTTTCTAAAGATGAGATCACTTTTGTATCTGGTGCTCCCAGAGCCAATCACAGTGGAGCCGTGGTTTTGCTGAAGAGAGACATGAAGTCTGCACATCTCCTCCCTGAGCACATATTCGATGGAGAAGGTCTGGCCTCTTCATTTGGCTATGATGTGGCGGTGGTGGACCTCAACAAGGATGGGTGGCAAGATATAGTTATTGGAGCCCCACAGTATTTTGATAGAGATGGAGAAGTTGGAGGTGCAGTGTATGTCTACATGAACCAGCAAGGCAGATGGAATAATGTGAAGCCAATTCGTCTTAATGGAACCAAAGATTCTATGTTTGGCATTGCAGTAAAAAATATTGGAGATATTAATCAAGATGGCTACCCAGATATTGCAGTTGGAGCTCCGTATGATGACTTGGGAAAGGTTTTTATCTATCATGGATCTGCAAATGGAATAAATACCAAACCAACACAGGTTCTCAAGGGTATATCACCTTATTTTGGATATTCAATTGCTGGAAACATGGACCTTGATCGAAATTCCTACCCTGATGTTGCTGTTGGTTCCCTCTCAGATTCAGTAACTATTTTCAGATCCCGGCCTGTGATTAATATTCAGAAAACCATCACAGTAACTCCTAACAGAATTGACCTCCGCCAGAAAACAGCGTGTGGGGCGCCTAGTGGGATATGCCTCCAGGTTAAATCCTGTTTTGAATATACTGCTAACCCCGCTGGTTATAATCCTTCAATATCAATTGTGGGCACACTTGAAGCTGAAAAAGAAAGAAGAAAATCTGGGCTATCCTCAAGAGTTCAGTTTCGAAACCAAGGTTCTGAGCCCAAATATACTCAAGAACTAACTCTGAAGAGGCAGAAACAGAAAGTGTGCATGGAGGAAACCCTGTGGCTACAGGATAATATCAGAGATAAACTGCGTCCCATTCCCATAACTGCCTCAGTGGAGATCCAAGAGCCAAGCTCTCGTAGGCGAGTGAATTCACTTCCAGAAGTTCTTCCAATTCTGAATTCAGATGAACCCAAGACAGCTCATATTGATGTTCACTTCTTAAAAGAGGGATGTGGAGACGACAATGTATGTAACAGCAACCTTAAACTAGAATATAAATTTTGCACCCGAGAAGGAAATCAAGACAAATTTTCTTATTTACCAATTCAAAAAGGTGTACCAGAACTAGTTCTAAAAGATCAGAAGGATATTGCTTTAGAAATAACAGTGACAAACAGCCCTTCCAACCCAAGGAATCCCACAAAAGATGGCGATGACGCCCATGAGGCTAAACTGATTGCAACGTTTCCAGACACTTTAACCTATTCTGCATATAGAGAACTGAGGGCTTTCCCTGAGAAACAGTTGAGTTGTGTTGCCAACCAGAATGGCTCGCAAGCTGACTGTGAGCTCGGAAATCCTTTTAAAAGAAATTCAAATGTCACTTTTTATTTGGTTTTAAGTACAACTGAAGTCACCTTTGACACCCCAGATCTGGATATTAATCTGAAGTTAGAAACAACAAGCAATCAAGATAATTTGGCTCCAATTACAGCTAAAGCAAAAGTGGTTATTGAACTGCTTTTATCGGTCTCGGGAGTTGCTAAACCTTCCCAGGTGTATTTTGGAGGTACAGTTGTTGGCGAGCAAGCTATGAAATCTGAAGATGAAGTGGGAAGTTTAATAGAGTATGAATTCAGGGTAATAAACTTAGGTAAACCTCTTACAAACCTCGGCACAGCAACCTTGAACATTCAGTGGCCAAAAGAAATTAGCAATGGGAAATGGTTGCTTTATTTGGTGAAAGTAGAATCCAAAGGATTGGAAAAGGTAACTTGTGAGCCACAAAAGGAGATAAACTCCCTGAACCTAACGGAGTCTCACAACTCAAGAAAGAAACGGGAAATTACTGAAAAACAGATAGATGATAACAGAAAATTTTCTTTATTTGCTGAAAGAAAATACCAGACTCTTAACTGTAGCGTGAACGTGAACTGTGTGAACATCAGATGCCCGCTGCGGGGGCTGGACAGCAAGGCGTCTCTTATTTTGCGCTCGAGGTTATGGAACAGCACATTTCTAGAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTTCGAGTGACTGTGTTTCCCTCAAAGACTGTAGCTCAGTATTCGGGAGTACCTTGGTGGATCATCCTAGTGGCTATTCTCGCTGGGATCTTGATGCTTGCTTTATTAGTGTTTATACTATGGAAGTGTGGTTTCTTCAAGAGAAATAAGAAAGATCATTATGATGCCACATATCACAAGGCTGAGATCCATGCTCAGCCATCTGATAAAGAGAGGCTTACTTCTGATGCATAGTATTGATCTACTTCTGTAATTGTGTGGATTCTTTAAACGCTCTAGGTACGATGACAGTGTTCCCCGATACCATGCTGTAAGGATCCGGAAAGAAGAGCGAGAGATCAAAGATGAAAAGTATATTGATAACCTTGAAAAAAAACAGTGGATCACAAAGTGGAACGAAAATGAAAGCTACTCATAGCGGGGGCCTAAAAAAAAAAAGCTTCACAGTACCCAAACTGCTTTTTCCAACTCAGAAATTCAATTTGGATTTAAAAGCCTGCTCAATCCCTGAGGACTGATTTCAGAGTGACTACACACAGTACGAACCTACAGTTTTAACTGTGGATATTGTTACGTAGCCTAAGGCTCCTGTTTTGCACAGCCAAATTTAAAACTGTTGGAATGGATTTTTCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTATTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGAAGGGCCTGCCCAGTTGCACTCAGGTGACATCCTCCAGATAGTGTAGCTGAGGAGGCACCTACACTCACCTGCACTAACAGAGTGGCCGTCCTAACCTCGGGCCTGCTGCGCAGACGTCCATCACGTTAGCTGTCCCACATCACAAGACTATGCCATTGGGGTAGTTGTGTTTCAACGGAAAGTGCTGTCTTAAACTAAATGTGCAATAGAAGGTGATGTTGCCATCCTACCGTCTTTTCCTGTTTCCTAGCTGTGTGAATACCTGCTCACGTCAAATGCATACAAGTTTCATTCTCCCTTTCACTAAAACACACAGGTGCAACAGACTTGAATGCTAGTTATACTTATTTGTATATGGTATTTATTTTTTCTTTTCTTTACAAACCATTTTGTTATTGACTAACAGGCCAAAGAGTCTCCAGTTTACCCTTCAGGTTGGTTTAATCAATCAGAATTAGAGCATGGGAGGTCATCACTTTGACCTAAATTATTTACTGCAAAAAGAAAATCTTTATAAATGTACCAGAGAGAGTTGTTTTAATAACTTATCTATAAACTATAACCTCTCCTTCATGACAGCCTCCACCCCACAACCCAAAAGGTTTAAGAAATAGAATTATAACTGTAAAGATGTTTATTTCAGGCATTGGATATTTTTTACTTTAGAAGCCTGCATAATGTTTCTGGATTTCATACTGTAACATTCAGGAATTCTTGGAGAAAATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCACTGCTGCAAATACTGTATATTCAGGACTTGAAAGAAATGGTGAATGCCTATGGTGGATCCAAACTGATCCAGTATAAGACTACTGAATCTGCTACCAAAACAGTTAATCAGTGAGTCGATGTTCTATTTTTTGTTTTGTTTCCTCCCCTATCTGTATTCCCAAAAATTACTTTGGGGCTAATTTAACAAGAACTTTAAATTGTGTTTTAATTGTAAAAATGGCAGGGGGTGGAATTATTACTCTATACATTCAACAGAGACTGAATAGATATGAAAGCTGATTTTTTTTAATTACCATGCTTCACAATGTTAAGTTATATGGGGAGCAACAGCAAACAGGTGCTAATTTGTTTTGGATATAGTATAAGCAGTGTCTGTGTTTTGAAAGAATAGAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGGGGCTTTTTTCTTTTCGGAAATCTTAAACCTTAAGATACTAAGGACGTTGTTTTGGTTGTACTTTGGAATTCTTAGTCACAAAATATATTTTGTTTACAAAAATTTCTGTAAAACAGGTTATAACAGTGTTTAAAGTCTCAGTTTCTTGCTTGGGGAACTTGTGTCCCTAATGTGTTTAGATTGCTAGATTGCTAAGGAGCTGATACTTTGACAGTGTTTTTAGACCTGTGTTACTAAAAAAAAGATGAATGTCCTGAAAAGGGTGTTGGGAGGGTGGTTCAACAAAGAAACAAAGATGTTATGGTGTTTAGATTTATGGTTGTTAAAAATGTCATCTCAAGTCAAGTCACTGGTCTGTTTGCATTTGATACATTTTTGTACTAACTAGCATTGTAAAATTATTTCATGATTAGAAATTACCTGTGGATATTTGTATAAAAGTGTGAAATAAATTTTTTATAAAAGTGTTCATTGTTTCGTAACACAGCATTGTATATGTGAAGCAAACTCTAAAATTATAAATGACAACCTGAATTATCTATTTCATCAAACCAAAGTTCAGTGTTTTTATTTTTGGTGTCTCATGTAATCTCAGATCAGCCAAAGATACTAGTGCCAAAGCAATGGGATTCGGGGTTTTTTTCTGTTTTCGCTCTATGTAGGTGATCCTCAAGTCTTTCATTTTCCTTCTTTATGATTAAAAGAAACCTACAGGTATTTAACAACCTA
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0
wild-type
NM_000210.3
ITGA6
2
TTGATAAAACGCCTGCGAGTCTCCAGAGAACAACGGGCTCATTCAGCGGTCGCGAGCTGCCCGCGAGGGGGAGCGGCCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGCGCAGCGGCGAGAGGAGGCGAAGGTGGCTGCGGTAGCAGCAGCGCGGCAGCCTCGGACCCAGCCCGGAGCGCAGGGCGGCCGCTGCAGGTCCCCGCTCCCCTCCCCGTGCGTCCGCCCATGGCCGCCGCCGGGCAGCTGTGCTTGCTCTACCTGTCGGCGGGGCTCCTGTCCCGGCTCGGCGCAGCCTTCAACTTGGACACTCGGGAGGACAACGTGATCCGGAAATATGGAGACCCCGGGAGCCTCTTCGGCTTCTCGCTGGCCATGCACTGGCAACTGCAGCCCGAGGACAAGCGGCTGTTGCTCGTGGGGGCCCCGCGGGCAGAAGCGCTTCCACTGCAGAGAGCCAACAGAACGGGAGGGCTGTACAGCTGCGACATCACCGCCCGGGGGCCATGCACGCGGATCGAGTTTGATAACGATGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGACATGTGCTCACCGATATGAAAAAAGGCAGCATGTTAATACGAAGCAGGAATCCCGAGACATCTTTGGGCGGTGTTATGTCCTGAGTCAGAATCTCAGGATTGAAGACGATATGGATGGGGGAGATTGGAGCTTTTGTGATGGGCGATTGAGAGGCCATGAGAAATTTGGCTCTTGCCAGCAAGGTGTAGCAGCTACTTTTACTAAAGACTTTCATTACATTGTATTTGGAGCCCCGGGTACTTATAACTGGAAAGGGATTGTTCGTGTAGAGCAAAAGAATAACACTTTTTTTGACATGAACATCTTTGAAGATGGGCCTTATGAAGTTGGTGGAGAGACTGAGCATGATGAAAGTCTCGTTCCTGTTCCTGCTAACAGTTACTTAGGTTTTTCTTTGGACTCAGGGAAAGGTATTGTTTCTAAAGATGAGATCACTTTTGTATCTGGTGCTCCCAGAGCCAATCACAGTGGAGCCGTGGTTTTGCTGAAGAGAGACATGAAGTCTGCACATCTCCTCCCTGAGCACATATTCGATGGAGAAGGTCTGGCCTCTTCATTTGGCTATGATGTGGCGGTGGTGGACCTCAACAAGGATGGGTGGCAAGATATAGTTATTGGAGCCCCACAGTATTTTGATAGAGATGGAGAAGTTGGAGGTGCAGTGTATGTCTACATGAACCAGCAAGGCAGATGGAATAATGTGAAGCCAATTCGTCTTAATGGAACCAAAGATTCTATGTTTGGCATTGCAGTAAAAAATATTGGAGATATTAATCAAGATGGCTACCCAGATATTGCAGTTGGAGCTCCGTATGATGACTTGGGAAAGGTTTTTATCTATCATGGATCTGCAAATGGAATAAATACCAAACCAACACAGGTTCTCAAGGGTATATCACCTTATTTTGGATATTCAATTGCTGGAAACATGGACCTTGATCGAAATTCCTACCCTGATGTTGCTGTTGGTTCCCTCTCAGATTCAGTAACTATTTTCAGATCCCGGCCTGTGATTAATATTCAGAAAACCATCACAGTAACTCCTAACAGAATTGACCTCCGCCAGAAAACAGCGTGTGGGGCGCCTAGTGGGATATGCCTCCAGGTTAAATCCTGTTTTGAATATACTGCTAACCCCGCTGGTTATAATCCTTCAATATCAATTGTGGGCACACTTGAAGCTGAAAAAGAAAGAAGAAAATCTGGGCTATCCTCAAGAGTTCAGTTTCGAAACCAAGGTTCTGAGCCCAAATATACTCAAGAACTAACTCTGAAGAGGCAGAAACAGAAAGTGTGCATGGAGGAAACCCTGTGGCTACAGGATAATATCAGAGATAAACTGCGTCCCATTCCCATAACTGCCTCAGTGGAGATCCAAGAGCCAAGCTCTCGTAGGCGAGTGAATTCACTTCCAGAAGTTCTTCCAATTCTGAATTCAGATGAACCCAAGACAGCTCATATTGATGTTCACTTCTTAAAAGAGGGATGTGGAGACGACAATGTATGTAACAGCAACCTTAAACTAGAATATAAATTTTGCACCCGAGAAGGAAATCAAGACAAATTTTCTTATTTACCAATTCAAAAAGGTGTACCAGAACTAGTTCTAAAAGATCAGAAGGATATTGCTTTAGAAATAACAGTGACAAACAGCCCTTCCAACCCAAGGAATCCCACAAAAGATGGCGATGACGCCCATGAGGCTAAACTGATTGCAACGTTTCCAGACACTTTAACCTATTCTGCATATAGAGAACTGAGGGCTTTCCCTGAGAAACAGTTGAGTTGTGTTGCCAACCAGAATGGCTCGCAAGCTGACTGTGAGCTCGGAAATCCTTTTAAAAGAAATTCAAATGTCACTTTTTATTTGGTTTTAAGTACAACTGAAGTCACCTTTGACACCCCAGATCTGGATATTAATCTGAAGTTAGAAACAACAAGCAATCAAGATAATTTGGCTCCAATTACAGCTAAAGCAAAAGTGGTTATTGAACTGCTTTTATCGGTCTCGGGAGTTGCTAAACCTTCCCAGGTGTATTTTGGAGGTACAGTTGTTGGCGAGCAAGCTATGAAATCTGAAGATGAAGTGGGAAGTTTAATAGAGTATGAATTCAGGGTAATAAACTTAGGTAAACCTCTTACAAACCTCGGCACAGCAACCTTGAACATTCAGTGGCCAAAAGAAATTAGCAATGGGAAATGGTTGCTTTATTTGGTGAAAGTAGAATCCAAAGGATTGGAAAAGGTAACTTGTGAGCCACAAAAGGAGATAAACTCCCTGAACCTAACGGAGTCTCACAACTCAAGAAAGAAACGGGAAATTACTGAAAAACAGATAGATGATAACAGAAAATTTTCTTTATTTGCTGAAAGAAAATACCAGACTCTTAACTGTAGCGTGAACGTGAACTGTGTGAACATCAGATGCCCGCTGCGGGGGCTGGACAGCAAGGCGTCTCTTATTTTGCGCTCGAGGTTATGGAACAGCACATTTCTAGAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTTCGAGTGACTGTGTTTCCCTCAAAGACTGTAGCTCAGTATTCGGGAGTACCTTGGTGGATCATCCTAGTGGCTATTCTCGCTGGGATCTTGATGCTTGCTTTATTAGTGTTTATACTATGGAAGTGTGGTTTCTTCAAGAGAAATAAGAAAGATCATTATGATGCCACATATCACAAGGCTGAGATCCATGCTCAGCCATCTGATAAAGAGAGGCTTACTTCTGATGCATAGTATTGATCTACTTCTGTAATTGTGTGGATTCTTTAAACGCTCTAGGTACGATGACAGTGTTCCCCGATACCATGCTGTAAGGATCCGGAAAGAGCGAGAGATCAAAGATGAAAAGTATATTGATAACCTTGAAAAAAAACAGTGGATCACAAAGTGGAACGAAAATGAAAGCTACTCATAGCGGGGGCCTAAAAAAAAAAAGCTTCACAGTACCCAAACTGCTTTTTCCAACTCAGAAATTCAATTTGGATTTAAAAGCCTGCTCAATCCCTGAGGACTGATTTCAGAGTGACTACACACAGTACGAACCTACAGTTTTAACTGTGGATATTGTTACGTAGCCTAAGGCTCCTGTTTTGCACAGCCAAATTTAAAACTGTTGGAATGGATTTTTCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTATTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGAAGGGCCTGCCCAGTTGCACTCAGGTGACATCCTCCAGATAGTGTAGCTGAGGAGGCACCTACACTCACCTGCACTAACAGAGTGGCCGTCCTAACCTCGGGCCTGCTGCGCAGACGTCCATCACGTTAGCTGTCCCACATCACAAGACTATGCCATTGGGGTAGTTGTGTTTCAACGGAAAGTGCTGTCTTAAACTAAATGTGCAATAGAAGGTGATGTTGCCATCCTACCGTCTTTTCCTGTTTCCTAGCTGTGTGAATACCTGCTCACGTCAAATGCATACAAGTTTCATTCTCCCTTTCACTAAAACACACAGGTGCAACAGACTTGAATGCTAGTTATACTTATTTGTATATGGTATTTATTTTTTCTTTTCTTTACAAACCATTTTGTTATTGACTAACAGGCCAAAGAGTCTCCAGTTTACCCTTCAGGTTGGTTTAATCAATCAGAATTAGAGCATGGGAGGTCATCACTTTGACCTAAATTATTTACTGCAAAAAGAAAATCTTTATAAATGTACCAGAGAGAGTTGTTTTAATAACTTATCTATAAACTATAACCTCTCCTTCATGACAGCCTCCACCCCACAACCCAAAAGGTTTAAGAAATAGAATTATAACTGTAAAGATGTTTATTTCAGGCATTGGATATTTTTTACTTTAGAAGCCTGCATAATGTTTCTGGATTTCATACTGTAACATTCAGGAATTCTTGGAGAAAATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCACTGCTGCAAATACTGTATATTCAGGACTTGAAAGAAATGGTGAATGCCTATGGTGGATCCAAACTGATCCAGTATAAGACTACTGAATCTGCTACCAAAACAGTTAATCAGTGAGTCGATGTTCTATTTTTTGTTTTGTTTCCTCCCCTATCTGTATTCCCAAAAATTACTTTGGGGCTAATTTAACAAGAACTTTAAATTGTGTTTTAATTGTAAAAATGGCAGGGGGTGGAATTATTACTCTATACATTCAACAGAGACTGAATAGATATGAAAGCTGATTTTTTTTAATTACCATGCTTCACAATGTTAAGTTATATGGGGAGCAACAGCAAACAGGTGCTAATTTGTTTTGGATATAGTATAAGCAGTGTCTGTGTTTTGAAAGAATAGAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGGGGCTTTTTTCTTTTCGGAAATCTTAAACCTTAAGATACTAAGGACGTTGTTTTGGTTGTACTTTGGAATTCTTAGTCACAAAATATATTTTGTTTACAAAAATTTCTGTAAAACAGGTTATAACAGTGTTTAAAGTCTCAGTTTCTTGCTTGGGGAACTTGTGTCCCTAATGTGTTTAGATTGCTAGATTGCTAAGGAGCTGATACTTTGACAGTGTTTTTAGACCTGTGTTACTAAAAAAAAGATGAATGTCCTGAAAAGGGTGTTGGGAGGGTGGTTCAACAAAGAAACAAAGATGTTATGGTGTTTAGATTTATGGTTGTTAAAAATGTCATCTCAAGTCAAGTCACTGGTCTGTTTGCATTTGATACATTTTTGTACTAACTAGCATTGTAAAATTATTTCATGATTAGAAATTACCTGTGGATATTTGTATAAAAGTGTGAAATAAATTTTTTATAAAAGTGTTCATTGTTTCGTAACACAGCATTGTATATGTGAAGCAAACTCTAAAATTATAAATGACAACCTGAATTATCTATTTCATCAAACCAAAGTTCAGTGTTTTTATTTTTGGTGTCTCATGTAATCTCAGATCAGCCAAAGATACTAGTGCCAAAGCAATGGGATTCGGGGTTTTTTTCTGTTTTCGCTCTATGTAGGTGATCCTCAAGTCTTTCATTTTCCTTCTTTATGATTAAAAGAAACCTACAGGTATTTAACAACCTA
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1
chr2:172504157:AAAG:A
NM_000207.2
INS
11
AGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCCTCTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGTGGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTGCAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGCCCGCAGGCAGCCCCACACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGAACCAGC
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0
wild-type
NM_000207.2
INS
11
AGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCCTCTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGTGGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTGCAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGCCCGCAGGCAGCCCCACACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAGGCCCTTGAACCAGC
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1
chr11:2159793:T:C,mRNA stability
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC
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0
wild-type
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAAAACATTTATTTTCATTGC
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1
chr11:5225483:TTTTTA:T,Impact on polyadenylation signal
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAGAAACATTTATTTTCATTGC
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1
chr11:5225485:T:C,Impact on polyadenylation signal
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAACAAAAAACATTTATTTTCATTGC
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1
chr11:5225488:A:G,Impact on polyadenylation signal
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAAAAAAAAACATTTATTTTCATTGC
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1
chr11:5225488:A:T,Impact on polyadenylation signal
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCCTAATAAAAAACATTTATTTTCATTGC
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1
chr11:5225492:GGCAGAATCCAGAT:G,Impact on polyadenylation signal
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAACGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC
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1
chr11:5225566:T:G,Altered miRNA binding
NM_000518.4
HBB
11
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGGTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC
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1
chr11:5225592:G:C
NM_001281503.1
SLITRK1
13
CGCGCTCTCTTCCTCCCTCAGACAACTCGCCCCCCGCCCTCCGCCCCCCTCCACGTAATTCCGAAAGAGCAGAAGAAAGAGAAGGAGAACAGGAAAAGAAGAGCTAGTAAGCGAGAGCGAGAGCACAGAAAAGAAAAAAAAAAGCCTTAAGAGGACCGAAGGGGAGGAAAGGAAAAGGATGGACAACCACAAAACGCAGCGATTGCGGAAATTTTCCAGCGCCATTGGCTGGGCAGCGTGAGTCCTTCGGTCGGGCGTGATTTCAGCACCGGGGGAACTGGACAGCACCTCGGGGGGACTTCTGGGCAACCCGCAACCACAGCAAGAACTCCACCAGCAGCCTCAACAACAGAAGCCGCGGAAAACCCTGCTTTGTATCAGAGAGGCAAGGATGGTCGCTGTTACTTTGTGATGAGATCGGGGATGAATTGCTCGCTTTAAAAATGCTGCTTTGGATTCTGTTGCTGGAGACGTCTCTTTGTTTTGCCGCTGGAAACGTTACAGGGGACGTTTGCAAAGAGAAGATCTGTTCCTGCAATGAGATAGAAGGGGACCTACACGTAGACTGTGAAAAAAAGGGCTTCACAAGTCTGCAGCGTTTCACTGCCCCGACTTCCCAGTTTTACCATTTATTTCTGCATGGCAATTCCCTCACTCGACTTTTCCCTAATGAGTTCGCTAACTTTTATAATGCGGTTAGTTTGCACATGGAAAACAATGGCTTGCATGAAATCGTTCCGGGGGCTTTTCTGGGGCTGCAGCTGGTGAAAAGGCTGCACATCAACAACAACAAGATCAAGTCTTTTCGAAAGCAGACTTTTCTGGGGCTGGACGATCTGGAATATCTCCAGGCTGATTTTAATTTATTACGAGATATAGACCCGGGGGCCTTCCAGGACTTGAACAAGCTGGAGGTGCTCATTTTAAATGACAATCTCATCAGCACCCTACCTGCCAACGTGTTCCAGTATGTGCCCATCACCCACCTCGACCTCCGGGGTAACAGGCTGAAAACGCTGCCCTATGAGGAGGTCTTGGAGCAAATCCCTGGTATTGCGGAGATCCTGCTAGAGGATAACCCTTGGGACTGCACCTGTGATCTGCTCTCCCTGAAAGAATGGCTGGAAAACATTCCCAAGAATGCCCTGATCGGCCGAGTGGTCTGCGAAGCCCCCACCAGACTGCAGGGTAAAGACCTCAATGAAACCACCGAACAGGACTTGTGTCCTTTGAAAAACCGAGTGGATTCTAGTCTCCCGGCGCCCCCTGCCCAAGAAGAGACCTTTGCTCCTGGACCCCTGCCAACTCCTTTCAAGACAAATGGGCAAGAGGATCATGCCACACCAGGGTCTGCTCCAAACGGAGGTACAAAGATCCCAGGCAACTGGCAGATCAAAATCAGACCCACAGCAGCGATAGCGACGGGTAGCTCCAGGAACAAACCCTTAGCTAACAGTTTACCCTGCCCTGGGGGCTGCAGCTGCGACCACATCCCAGGGTCGGGTTTAAAGATGAACTGCAACAACAGGAACGTGAGCAGCTTGGCTGATTTGAAGCCCAAGCTCTCTAACGTGCAGGAGCTTTTCCTACGAGATAACAAGATCCACAGCATCCGAAAATCGCACTTTGTGGATTACAAGAACCTCATTCTGTTGGATCTGGGCAACAATAACATCGCTACTGTAGAGAACAACACTTTCAAGAACCTTTTGGACCTCAGGTGGCTATACATGGATAGCAATTACCTGGACACGCTGTCCCGGGAGAAATTCGCGGGGCTGCAAAACCTAGAGTACCTGAACGTGGAGTACAACGCTATCCAGCTCATCCTCCCGGGCACTTTCAATGCCATGCCCAAACTGAGGATCCTCATTCTCAACAACAACCTGCTGAGGTCCCTGCCTGTGGACGTGTTCGCTGGGGTCTCGCTCTCTAAACTCAGCCTGCACAACAATTACTTCATGTACCTCCCGGTGGCAGGGGTGCTGGACCAGTTAACCTCCATCATCCAGATAGACCTCCACGGAAACCCCTGGGAGTGCTCCTGCACAATTGTGCCTTTCAAGCAGTGGGCAGAACGCTTGGGTTCCGAAGTGCTGATGAGCGACCTCAAGTGTGAGACGCCGGTGAACTTCTTTAGAAAGGATTTCATGCTCCTCTCCAATGACGAGATCTGCCCTCAGCTGTACGCTAGGATCTCGCCCACGTTAACTTCGCACAGTAAAAACAGCACTGGGTTGGCGGAGACCGGGACGCACTCCAACTCCTACCTAGACACCAGCAGGGTGTCCATCTCGGTGTTGGTCCCGGGACTGCTGCTGGTGTTTGTCACCTCCGCCTTCACCGTGGTGGGCATGCTCGTGTTTATCCTGAGGAACCGAAAGCGGTCCAAGAGACGAGATGCCAACTCCTCCGCGTCCGAGATTAATTCCCTACAGACAGTCTGTGACTCTTCCTACTGGCACAATGGGCCTTACAACGCAGATGGGGCCCACAGAGTGTATGACTGTGGCTCTCACTCGCTCTCAGACTAAGACCCCAACCCCAATAGGGGAGGGCAGAGGGAAGGCGATACATCCTTCCCCACCGCAGGCACCCCGGGGGCTGGAGGGGCGTGTACCCAAATCCCCGCGCCATCAGCCTGGATGGGCATAAGTAGATAAATAACTGTGAGCTCGCACAACCGAAAGGGCCTGACCCCTTACTTAGCTCCCTCCTTGAAACAAAGAGCAGACTGTGGAGAGCTGGGAGAGCGCAGCCAGCTCGCTCTTTGCTGAGAGCCCCTTTTGACAGAAAGCCCAGCACGACCCTGCTGGAAGAACTGACAGTGCCCTCGCCCTCGGCCCCGGGGCCTGTGGGGTTGGATGCCGCGGTTCTATACATATATACATATATCCACATCTATATAGAGAGATAGATATCTATTTTTCCCCTGTGGATTAGCCCCGTGATGGCTCCCTGTTGGCTACGCAGGGATGGGCAGTTGCACGAAGGCATGAATGTATTGTAAATAAGTAACTTTGACTTCTGACAAAAAACAAAAAGTGCTGCATGGCTCGCATGGAATCCACGCGCTCCAGGGACTCTGCCCGCCCCCGCGACTGGAGACGGCATCTCGTTCACAGCACCCACCCTCTTACCTGATAAGTTCCATCGTATCAAACTTTCTATAAACAAAATACAGTATAATCAGAAAGTGCCATTTCGCCATTATTTGTGATCGGTAGGCAGTTCAGAGCATAAGTTAACTGTGAAAAAAATGTAAAGGTTTTATTTAGGACATTTGCATGGCTAGTCATCAGTCCATTTTATGAGTTAACAATGTATTTTGTTGAGGGAAGTTTTTAGGGGTTGTTTTGGGTTCTTTTATTTTGATGGTGATGTTTTATTTTATTTTATTTTTTTCAGGGGGTCTTTTTTTTAATACATATCCAATAATGCCTTCCATCTGAATGTAAAATAAGTACCCATGATTTCTATTATAGTATCAGTGTAATTATTTAAAAAATGATTTTGAGGCAGTTAAGCATGACCAATTAATGTCACTCTAGTGCTTAGGCTGCGATCCTATGGTAGCAATTCTGTGCTGGTATAAATCTTACTTATAAAGTAGGAAAAGAGAACCGAGGAAGCACGTGAAACTTACTAATTCTATTCGAGGATTTTATAATGGCATATTTTTTCAGTATTAAAGCGAAAATGTTTTCAACTCTGGGTCCTTACCTTTTTCCAGCTTCATATTTGCAAGTGGTAAATTGGATTTGCGGTGGAAGAGACAGGGGAGGGAAACGGTTGGGGTTAGATCCCTTCCTGAGCTACATTAAGGCTCTTTCTCTAATCGCCTTACTTAGCTTTTTACCCTTTAAGTAGCTCCTCTTCCCTCGCCCCCACCCTCTACCCCACCCCCACCTTCGCTCAGACTTTACCGGCTTTCCCCAGTCCATAAAGGTCTTGCCCCAACACTCACCCCTTCTTTTTTTCCCCTCTCCAAATGCAGCAGTGAATCCCTTTATTAATACTGGAAATCCCTCTCTGCTGCTTTTGTTGGTGCTGCCCACACTGCAGATATATTAAGGATGTTAGGAGAGATTTGATTTAATTGACTCTGCCTAGATAGGTCTCATTAAACAGAGTGGAGATTTCATTGGTCAGCACTCCTCAATGAAAGACAGACCTAATGACTGGCATTTGAGATGCTGCTGGCATTTTGAATTCAACATCTGCTGAAAACGGTAAAACTAATTAGTGCCCACCCACCCTCCCCGCCCCAGCAACTGCATATTGAAATTTGTTAAAGCACTCATCTTTATGGAAATTAATCATTATCCTAAAGAAGTGTTTCTCTCCCATCATCCGGATTTCTGGTTGTGGCCCAGCAATTAACAAAAACAGCTTCAACTGTTCGAATTTTATGAACCAATGTAACTCTGGCCTCAATCATATTCCTCTGGGATTTCTAAACAGCAGTTAAGCTACAAAAAGCAAACAAAACCACACATATTGATGGAGTCTGCATTCCACCACATATCCACCCTTGAGAAGTATGTCAAAAGACTGCAGACTATAGATTTTTTTTTAATATAGGATTATAAATCAGCTAGTGAAAGACCTCAGAGCAGTTGTAAGTAGATCTGCCATCTAGAACTCATATTCTAAAGGGAAGTGATTTCTCAGAACAGTGATGTTCTGGAATATGTATTATTTATTTTAACACTTTTTTAATAAAATCTTTATTATAAACCATGA
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0
wild-type
NM_001281503.1
SLITRK1
13
CGCGCTCTCTTCCTCCCTCAGACAACTCGCCCCCCGCCCTCCGCCCCCCTCCACGTAATTCCGAAAGAGCAGAAGAAAGAGAAGGAGAACAGGAAAAGAAGAGCTAGTAAGCGAGAGCGAGAGCACAGAAAAGAAAAAAAAAAGCCTTAAGAGGACCGAAGGGGAGGAAAGGAAAAGGATGGACAACCACAAAACGCAGCGATTGCGGAAATTTTCCAGCGCCATTGGCTGGGCAGCGTGAGTCCTTCGGTCGGGCGTGATTTCAGCACCGGGGGAACTGGACAGCACCTCGGGGGGACTTCTGGGCAACCCGCAACCACAGCAAGAACTCCACCAGCAGCCTCAACAACAGAAGCCGCGGAAAACCCTGCTTTGTATCAGAGAGGCAAGGATGGTCGCTGTTACTTTGTGATGAGATCGGGGATGAATTGCTCGCTTTAAAAATGCTGCTTTGGATTCTGTTGCTGGAGACGTCTCTTTGTTTTGCCGCTGGAAACGTTACAGGGGACGTTTGCAAAGAGAAGATCTGTTCCTGCAATGAGATAGAAGGGGACCTACACGTAGACTGTGAAAAAAAGGGCTTCACAAGTCTGCAGCGTTTCACTGCCCCGACTTCCCAGTTTTACCATTTATTTCTGCATGGCAATTCCCTCACTCGACTTTTCCCTAATGAGTTCGCTAACTTTTATAATGCGGTTAGTTTGCACATGGAAAACAATGGCTTGCATGAAATCGTTCCGGGGGCTTTTCTGGGGCTGCAGCTGGTGAAAAGGCTGCACATCAACAACAACAAGATCAAGTCTTTTCGAAAGCAGACTTTTCTGGGGCTGGACGATCTGGAATATCTCCAGGCTGATTTTAATTTATTACGAGATATAGACCCGGGGGCCTTCCAGGACTTGAACAAGCTGGAGGTGCTCATTTTAAATGACAATCTCATCAGCACCCTACCTGCCAACGTGTTCCAGTATGTGCCCATCACCCACCTCGACCTCCGGGGTAACAGGCTGAAAACGCTGCCCTATGAGGAGGTCTTGGAGCAAATCCCTGGTATTGCGGAGATCCTGCTAGAGGATAACCCTTGGGACTGCACCTGTGATCTGCTCTCCCTGAAAGAATGGCTGGAAAACATTCCCAAGAATGCCCTGATCGGCCGAGTGGTCTGCGAAGCCCCCACCAGACTGCAGGGTAAAGACCTCAATGAAACCACCGAACAGGACTTGTGTCCTTTGAAAAACCGAGTGGATTCTAGTCTCCCGGCGCCCCCTGCCCAAGAAGAGACCTTTGCTCCTGGACCCCTGCCAACTCCTTTCAAGACAAATGGGCAAGAGGATCATGCCACACCAGGGTCTGCTCCAAACGGAGGTACAAAGATCCCAGGCAACTGGCAGATCAAAATCAGACCCACAGCAGCGATAGCGACGGGTAGCTCCAGGAACAAACCCTTAGCTAACAGTTTACCCTGCCCTGGGGGCTGCAGCTGCGACCACATCCCAGGGTCGGGTTTAAAGATGAACTGCAACAACAGGAACGTGAGCAGCTTGGCTGATTTGAAGCCCAAGCTCTCTAACGTGCAGGAGCTTTTCCTACGAGATAACAAGATCCACAGCATCCGAAAATCGCACTTTGTGGATTACAAGAACCTCATTCTGTTGGATCTGGGCAACAATAACATCGCTACTGTAGAGAACAACACTTTCAAGAACCTTTTGGACCTCAGGTGGCTATACATGGATAGCAATTACCTGGACACGCTGTCCCGGGAGAAATTCGCGGGGCTGCAAAACCTAGAGTACCTGAACGTGGAGTACAACGCTATCCAGCTCATCCTCCCGGGCACTTTCAATGCCATGCCCAAACTGAGGATCCTCATTCTCAACAACAACCTGCTGAGGTCCCTGCCTGTGGACGTGTTCGCTGGGGTCTCGCTCTCTAAACTCAGCCTGCACAACAATTACTTCATGTACCTCCCGGTGGCAGGGGTGCTGGACCAGTTAACCTCCATCATCCAGATAGACCTCCACGGAAACCCCTGGGAGTGCTCCTGCACAATTGTGCCTTTCAAGCAGTGGGCAGAACGCTTGGGTTCCGAAGTGCTGATGAGCGACCTCAAGTGTGAGACGCCGGTGAACTTCTTTAGAAAGGATTTCATGCTCCTCTCCAATGACGAGATCTGCCCTCAGCTGTACGCTAGGATCTCGCCCACGTTAACTTCGCACAGTAAAAACAGCACTGGGTTGGCGGAGACCGGGACGCACTCCAACTCCTACCTAGACACCAGCAGGGTGTCCATCTCGGTGTTGGTCCCGGGACTGCTGCTGGTGTTTGTCACCTCCGCCTTCACCGTGGTGGGCATGCTCGTGTTTATCCTGAGGAACCGAAAGCGGTCCAAGAGACGAGATGCCAACTCCTCCGCGTCCGAGATTAATTCCCTACAGACAGTCTGTGACTCTTCCTACTGGCACAATGGGCCTTACAACGCAGATGGGGCCCACAGAGTGTATGACTGTGGCTCTCACTCGCTCTCAGACTAAGACCCCAACCCCAATAGGGGAGGGCAGAGGGAAGGCGATACATCCTTCCCCACCGCAGGCACCCCGGGGGCTGGAGGGGCGTGTACCCAAATCCCCGCGCCATCAGCCTGGATGGGCATAAGTAGATAAATAACTGTGAGCTCGCACAACCGAAAGGGCCTGACCCCTTACTTAGCTCCCTCCTTGAAACAAAGAGCAGACTGTGGAGAGCTGGGAGAGCGCAGCCAGCTCGCTCTTTGCTGAGAGCCCCTTTTGACAGAAAGCCCAGCACGACCCTGCTGGAAGAACTGACAGTGCCCTCGCCCTCGGCCCCGGGGCCTGTGGGGTTGGATGCCGCGGTTCTATACATATATACATATATCCACATCTATATAGAGAGATAGATATCTATTTTTCCCCTGTGGATTAGCCCCGTGATGGCTCCCTGTTGGCTACGCAGGGATGGGCAGTTGCACGAAGGCATGAATGTATTGTAAATAAGTAACTTTGACTTCTGACAAAAAACAAAAAGTGCTGCATGGCTCGCATGGAATCCACGCGCTCCAGGGACTCTGCCCGCCCCCGCGACTGGAGACGGCATCTCGTTCACAGCACCCACCCTCTTACCTGATAAGTTCCATCGTATCAAACTTTCTATAAACAAAATACAGTATAATCAGAAAGTGCCATTTCGCCATTATTTGTGATCAGTAGGCAGTTCAGAGCATAAGTTAACTGTGAAAAAAATGTAAAGGTTTTATTTAGGACATTTGCATGGCTAGTCATCAGTCCATTTTATGAGTTAACAATGTATTTTGTTGAGGGAAGTTTTTAGGGGTTGTTTTGGGTTCTTTTATTTTGATGGTGATGTTTTATTTTATTTTATTTTTTTCAGGGGGTCTTTTTTTTAATACATATCCAATAATGCCTTCCATCTGAATGTAAAATAAGTACCCATGATTTCTATTATAGTATCAGTGTAATTATTTAAAAAATGATTTTGAGGCAGTTAAGCATGACCAATTAATGTCACTCTAGTGCTTAGGCTGCGATCCTATGGTAGCAATTCTGTGCTGGTATAAATCTTACTTATAAAGTAGGAAAAGAGAACCGAGGAAGCACGTGAAACTTACTAATTCTATTCGAGGATTTTATAATGGCATATTTTTTCAGTATTAAAGCGAAAATGTTTTCAACTCTGGGTCCTTACCTTTTTCCAGCTTCATATTTGCAAGTGGTAAATTGGATTTGCGGTGGAAGAGACAGGGGAGGGAAACGGTTGGGGTTAGATCCCTTCCTGAGCTACATTAAGGCTCTTTCTCTAATCGCCTTACTTAGCTTTTTACCCTTTAAGTAGCTCCTCTTCCCTCGCCCCCACCCTCTACCCCACCCCCACCTTCGCTCAGACTTTACCGGCTTTCCCCAGTCCATAAAGGTCTTGCCCCAACACTCACCCCTTCTTTTTTTCCCCTCTCCAAATGCAGCAGTGAATCCCTTTATTAATACTGGAAATCCCTCTCTGCTGCTTTTGTTGGTGCTGCCCACACTGCAGATATATTAAGGATGTTAGGAGAGATTTGATTTAATTGACTCTGCCTAGATAGGTCTCATTAAACAGAGTGGAGATTTCATTGGTCAGCACTCCTCAATGAAAGACAGACCTAATGACTGGCATTTGAGATGCTGCTGGCATTTTGAATTCAACATCTGCTGAAAACGGTAAAACTAATTAGTGCCCACCCACCCTCCCCGCCCCAGCAACTGCATATTGAAATTTGTTAAAGCACTCATCTTTATGGAAATTAATCATTATCCTAAAGAAGTGTTTCTCTCCCATCATCCGGATTTCTGGTTGTGGCCCAGCAATTAACAAAAACAGCTTCAACTGTTCGAATTTTATGAACCAATGTAACTCTGGCCTCAATCATATTCCTCTGGGATTTCTAAACAGCAGTTAAGCTACAAAAAGCAAACAAAACCACACATATTGATGGAGTCTGCATTCCACCACATATCCACCCTTGAGAAGTATGTCAAAAGACTGCAGACTATAGATTTTTTTTTAATATAGGATTATAAATCAGCTAGTGAAAGACCTCAGAGCAGTTGTAAGTAGATCTGCCATCTAGAACTCATATTCTAAAGGGAAGTGATTTCTCAGAACAGTGATGTTCTGGAATATGTATTATTTATTTTAACACTTTTTTAATAAAATCTTTATTATAAACCATGA
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1
chr13:83878728:C:T,Altered miRNA binding
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Overview

This utr variant effect prediction task measures the pathogenicity of single nucleotide polymorpism (SNPs) and indels (insertion-deletions) in 3' and 5' UTRs. This dataset is a reprocessing of the dataset from DeepGenomics (Bohn et al. Frontiers in Molecular Biosciences. 2023), see the original paper for the data generation process. We provide the mRNA transcript sequence context for the variant and wildtype sequences using the specified transcript id from RefSeq v109.

This dataset is redistributed as part of mRNABench: https://github.com/morrislab/mRNABench

Data Format

Description of data columns:

  • target: Whether the specified sequence contains a pathogenic mutation.
  • cds: Binary track which reports position of first nucleotide in each codon in CDS.
  • splice: Binary track which reports position of the 3' end of each exon, indicating splice sites.
  • description: Description of the sequence, either in the format chr{chr}:{position} {ref_base}:{alt_base}[,optional variant impact] or wild-type for the unmodified sequence.

Note: The position of the variant is 1-indexed (ClinVar notation) and refers to the position of the variant on the positive strand.

Data Source

This dataset is generated using a dataset collected by a team at DeepGenomics and is under a CC by 4.0 license.

Please attribute:

Original paper: https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2023.1257550/full
Original paper GitHub: https://github.com/deepgenomics/UTR_variants_DL_manuscript
3' UTR Variant data source: https://github.com/deepgenomics/UTR_variants_DL_manuscript/blob/main/data/utr3_plp_benchmark.tsv
5' UTR Variant data source: https://github.com/deepgenomics/UTR_variants_DL_manuscript/blob/main/data/utr5_plp_benchmark.tsv
Citation: Bohn E, Lau TTY, Wagih O, Masud T and Merico D (2023) A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction. Front. Mol. Biosci. 10:1257550. doi: 10.3389/fmolb.2023.1257550

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