mRNABench
Collection
Collection of datasets re-hosted for mRNABench: https://github.com/morrislab/mRNABench • 13 items • Updated
• 3
transcript_id string | gene string | chromosome string | sequence string | cds list | splice list | target int64 | description string |
|---|---|---|---|---|---|---|---|
NM_020451.2 | SELENON | 1 | CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGGTCAACTCCCGCGGCCAGCTGCGAGGAGGAGGAGTTGCCCCCTGACCCTAGCGAGGAGACGCTCACCATAGAAGCCCGATTCCAGCCTCTGCTCCCGGAGACCATGACCAAGAGCAAAGATGGCTTCCTAGGGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCCCCCCCAGATCAGGGCCTGGGTGAACTCCCTGGACCTTTCCTAGCCAGCCGCACAGTCTAGGCCCTTGTGGGGTGAAGAATGGAGGGAGGAGCAGGCTAGGAAGACGGGGCCACCACCCTCTCCTTGCTTTCAGCCCTTCCCACAGGAAACATCAAGAAGCCCCAGCCAGGAGGGGCCAGGCTGCCAAGGCGGCTCCCCTGTTTATCTAGAGCCTTCGTTCCTGGCCATACCCCGGACTGCCCTCCTGTGCCTGATGTCCCCAGCTGGGGTCAGTCTCAACAGGAGCCAGTCTTCTGGAGCCTCTGGGCAGAACCCTCCATCAGAGTGGAAATCAGACGGGACCCCCTGCAGCTTCCCTGACCACGCCACTGACCAGCTATCTGGGGAAGTTTACTGTGAAGGGGTTTCTGCCTTTAGCAATGGGGTTCACTAAGGGGGTTCCCGAGGCCCAGGGCCAAGGCACTCCCACCGCCTACCTTAGCACAGGGTCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTCTTGCCCCTCAGACCTTGCATCCACAGAAGCACAACCCAGCCAAACACCACAGCCTTCTCCAGAGCCGGCACTGTCCCGGCAACCAGGGGTGCCCCAGGCTAGCTCTTCTACCTCTGGGGCACCACGGACTCCCCTTGGCCACTCTTGGGACTTTGGTCCACGTCCTGAGCCACTGACCACGGCCAGTCTCTCTTTTTATATGTGCAGAAAAGTGTTTTTACACAAACTTTCTCATGGTTTGTAGGTATTTTTTTATAACCCCAGTGCTGAGGAGAAAGGAGGGGCAGTGGCTTCCCCGGCAGCAGCCCCATGATGGCTGAATCCGAAATCCTCGATGGGTCCAGCTTGATGTCTTTGCAGCTGCACCTATGGGAAGAAGTAGTCCTCTCTTCCTTCTCCTCTTCAGCTTTTTAAAAACAGTCCTCAGAGGATCCATGATCCCCAGCACTGTCCCATCCTCCACAAAGGCCCACAGGCATGCCTGTACTCTCTTTCATTAAGGTCTTGAAGTCAGGCTGCCCCCTCCCCAGCCCCCAGTTCTCTCCCCACCCCCTCACCCCACCCGGGGCTCACTCAGCCTGGCAGAGGAAGAAGGAAGGCAGACATCTCCGCAGCCACTCCTGGGCCTTTTATGTGCCGAGTTACCCCACTTGCCTTGGGCGTGTCCACTGAGCCTTCCCCAGCCAGTCTTGTTCTCAATTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTATGGCTCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGATCTGGAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAATCGTGCCCAGCCTTGTTCTTAATTTTGTATCATCCAGTCATCGCTAATATTACACGCACCTTCTCACTTAATCCTCACGACAAGCCTGTGAGGCAGATGCTCATTGTTCCCATCTTGATGAAACTTGAGTCTCAGGGAAGTGAAGTGACTTGCCCAGGGTCACTCAGGTAGAGTTGAGATTCAAACCCACATGTGGCTCCAAAGTCTGCATCTGGATTTGGGGGTGTTTTTTGGCATGGCACCCTCACCTCTCTCCCTGCCTGTTTTCCCCAAAGTGGAAAGGAAGGCCTTTCAAACCAGAGTGTCTCACTCCCCTCTGACCTCCAGACCAGATGGGGCATGAGCCAGCCAGCTCAGCCAGGCTCCCTGTGTCCTGGGAGGAAGTGTCCCCATCCCCCATGCCCCTTATGGGGAGGGAGGGCGTCTGATGCTCTCTCTCTGCCTCCCCCCCCATCCTGTCAGGCACAGGTGACGGGGGCAGCCCATGCGAGCCCTTCTCCTGCTGCTCTGGGAGGGCCAGTTCCACATTGAGCCAGCCTGGTCCCATGGAAAATGATGGCCTGGGCTTTCTGAGGCCTTATCTGATGCCTCTGCAGTTCATGTCCCCCACCAGGCCTCGAGGCTCAGGGTGGGAGAGGGCCCCGGGCTGCCCTGTCACTCCTCTAACACTTCCCTCCCCTGTCCCCAACATGCCCTGTAATAAAATTAGAGAAGACTAAC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_020451.2 | SELENON | 1 | CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGGTCAACTCCCGCGGCCAGCTGCGAGGAGGAGGAGTTGCCCCCTGACCCTAGCGAGGAGACGCTCACCATAGAAGCCCGATTCCAGCCTCTGCTCCCGGAGACCATGACCAAGAGCAAAGATGGCTTCCTAGGGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCCCCCCCAGATCAGGGCCTGGGTGAACTCCCTGGACCTTTCCTAGCCAGCCGCACAGTCTAGGCCCTTGTGGGGTGAAGAATGGAGGGAGGAGCAGGCTAGGAAGACGGGGCCACCACCCTCTCCTTGCTTTCAGCCCTTCCCACAGGAAACATCAAGAAGCCCCAGCCAGGAGGGGCCAGGCTGCCAAGGCGGCTCCCCTGTTTATCTAGAGCCTTCGTTCCTGGCCATACCCCGGACTGCCCTCCTGTGCCTGATGTCCCCAGCTGGGGTCAGTCTCAACAGGAGCCAGTCTTCTGGAGCCTCTGGGCAGAACCCTCCATCAGAGTGGAAATCAGACGGGACCCCCTGCAGCTTCCCTGACCACGCCACTGACCAGCTATCTGGGGAAGTTTACTGTGAAGGGGTTTCTGCCTTTAGCAATGGGGTTCACTAAGGGGGTTCCCGAGGCCCAGGGCCAAGGCACTCCCACCGCCTACCTTAGCACAGGGTCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTCTTGCCCCTCAGACCTTGCATCCACAGAAGCACAACCCAGCCAAACACCACAGCCTTCTCCAGAGCCGGCACTGTCCCGGCAACCAGGGGTGCCCCAGGCTAGCTCTTCTACCTCTGGGGCACCACGGACTCCCCTTGGCCACTCTTGGGACTTTGGTCCACGTCCTGAGCCACTGACCACGGCCAGTCTCTCTTTTTATATGTGCAGAAAAGTGTTTTTACACAAACTTTCTCATGGTTTGTAGGTATTTTTTTATAACCCCAGTGCTGAGGAGAAAGGAGGGGCAGTGGCTTCCCCGGCAGCAGCCCCACGATGGCTGAATCCGAAATCCTCGATGGGTCCAGCTTGATGTCTTTGCAGCTGCACCTATGGGAAGAAGTAGTCCTCTCTTCCTTCTCCTCTTCAGCTTTTTAAAAACAGTCCTCAGAGGATCCATGATCCCCAGCACTGTCCCATCCTCCACAAAGGCCCACAGGCATGCCTGTACTCTCTTTCATTAAGGTCTTGAAGTCAGGCTGCCCCCTCCCCAGCCCCCAGTTCTCTCCCCACCCCCTCACCCCACCCGGGGCTCACTCAGCCTGGCAGAGGAAGAAGGAAGGCAGACATCTCCGCAGCCACTCCTGGGCCTTTTATGTGCCGAGTTACCCCACTTGCCTTGGGCGTGTCCACTGAGCCTTCCCCAGCCAGTCTTGTTCTCAATTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTATGGCTCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGATCTGGAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAATCGTGCCCAGCCTTGTTCTTAATTTTGTATCATCCAGTCATCGCTAATATTACACGCACCTTCTCACTTAATCCTCACGACAAGCCTGTGAGGCAGATGCTCATTGTTCCCATCTTGATGAAACTTGAGTCTCAGGGAAGTGAAGTGACTTGCCCAGGGTCACTCAGGTAGAGTTGAGATTCAAACCCACATGTGGCTCCAAAGTCTGCATCTGGATTTGGGGGTGTTTTTTGGCATGGCACCCTCACCTCTCTCCCTGCCTGTTTTCCCCAAAGTGGAAAGGAAGGCCTTTCAAACCAGAGTGTCTCACTCCCCTCTGACCTCCAGACCAGATGGGGCATGAGCCAGCCAGCTCAGCCAGGCTCCCTGTGTCCTGGGAGGAAGTGTCCCCATCCCCCATGCCCCTTATGGGGAGGGAGGGCGTCTGATGCTCTCTCTCTGCCTCCCCCCCCATCCTGTCAGGCACAGGTGACGGGGGCAGCCCATGCGAGCCCTTCTCCTGCTGCTCTGGGAGGGCCAGTTCCACATTGAGCCAGCCTGGTCCCATGGAAAATGATGGCCTGGGCTTTCTGAGGCCTTATCTGATGCCTCTGCAGTTCATGTCCCCCACCAGGCCTCGAGGCTCAGGGTGGGAGAGGGCCCCGGGCTGCCCTGTCACTCCTCTAACACTTCCCTCCCCTGTCCCCAACATGCCCTGTAATAAAATTAGAGAAGACTAAC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr1:25816824 T:C,Impact on secondary structure |
NM_014017.3 | LAMTOR2 | 1 | GGTGGGGCGGGGTTGAGTCGGAACCACAATAGCCAGGCGAAGAAACTACAACTCCCAGGGCGTCCCGGAGCAGGCCAACGGGACTACGGGAAGCAGCGGGCAGCGGCCCGCGGGAGGCACCTCGGAGATCTGGGTGCAAAAGCCCAGGGTTAGGAACCGTAGGCATGCTGCGCCCCAAGGCTTTGACCCAGGTGCTAAGCCAAGCCAACACTGGAGGCGTCCAGAGCACCCTGCTGCTGAATAACGAGGGATCACTGCTGGCCTACTCTGGTTACGGGGACACTGACGCCCGGGTCACCGCTGCCATAGCCAGTAACATCTGGGCCGCCTACGACCGGAACGGGAACCAAGCGTTTAATGAAGACAATCTCAAATTCATCCTCATGGACTGCATGGAGGGCCGTGTAGCCATCACCCGAGTGGCCAACCTTCTGCTGTGTATGTATGCCAAGGAGACCGTGGGCTTTGGAATGCTCAAGGCCAAGGCCCAGGCTTTGGTGCAGTACCTGGAGGAGCCCCTCACCCAAGTGGCGGCATCTTAACGGCATTGGTGGAAGCTGGGGTCAGAAAAGAGAAATGACCATTTGGAGGGGCGGGGCCTCCTAGAAGAACCTTCTTAGACAATGGGGGGAGGATGGGACTTTGTTTTTTCCAAGAATAAACTTCAACTCCTGTCATGTG | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_014017.3 | LAMTOR2 | 1 | GGTGGGGCGGGGTTGAGTCGGAACCACAATAGCCAGGCGAAGAAACTACAACTCCCAGGGCGTCCCGGAGCAGGCCAACGGGACTACGGGAAGCAGCGGGCAGCGGCCCGCGGGAGGCACCTCGGAGATCTGGGTGCAAAAGCCCAGGGTTAGGAACCGTAGGCATGCTGCGCCCCAAGGCTTTGACCCAGGTGCTAAGCCAAGCCAACACTGGAGGCGTCCAGAGCACCCTGCTGCTGAATAACGAGGGATCACTGCTGGCCTACTCTGGTTACGGGGACACTGACGCCCGGGTCACCGCTGCCATAGCCAGTAACATCTGGGCCGCCTACGACCGGAACGGGAACCAAGCGTTTAATGAAGACAATCTCAAATTCATCCTCATGGACTGCATGGAGGGCCGTGTAGCCATCACCCGAGTGGCCAACCTTCTGCTGTGTATGTATGCCAAGGAGACCGTGGGCTTTGGAATGCTCAAGGCCAAGGCCCAGGCTTTGGTGCAGTACCTGGAGGAGCCCCTCACCCAAGTGGCGGCATCTTAACGGCATTGGTGGAAGCTGGGGTAAGAAAAGAGAAATGACCATTTGGAGGGGCGGGGCCTCCTAGAAGAACCTTCTTAGACAATGGGGGGAGGATGGGACTTTGTTTTTTCCAAGAATAAACTTCAACTCCTGTCATGTG | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr1:156058393 C:A,Impact on polyadenylation signal |
NM_000210.3 | ITGA6 | 2 | TTGATAAAACGCCTGCGAGTCTCCAGAGAACAACGGGCTCATTCAGCGGTCGCGAGCTGCCCGCGAGGGGGAGCGGCCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGCGCAGCGGCGAGAGGAGGCGAAGGTGGCTGCGGTAGCAGCAGCGCGGCAGCCTCGGACCCAGCCCGGAGCGCAGGGCGGCCGCTGCAGGTCCCCGCTCCCCTCCCCGTGCGTCCGCCCATGGCCGCCGCCGGGCAGCTGTGCTTGCTCTACCTGTCGGCGGGGCTCCTGTCCCGGCTCGGCGCAGCCTTCAACTTGGACACTCGGGAGGACAACGTGATCCGGAAATATGGAGACCCCGGGAGCCTCTTCGGCTTCTCGCTGGCCATGCACTGGCAACTGCAGCCCGAGGACAAGCGGCTGTTGCTCGTGGGGGCCCCGCGGGCAGAAGCGCTTCCACTGCAGAGAGCCAACAGAACGGGAGGGCTGTACAGCTGCGACATCACCGCCCGGGGGCCATGCACGCGGATCGAGTTTGATAACGATGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGACATGTGCTCACCGATATGAAAAAAGGCAGCATGTTAATACGAAGCAGGAATCCCGAGACATCTTTGGGCGGTGTTATGTCCTGAGTCAGAATCTCAGGATTGAAGACGATATGGATGGGGGAGATTGGAGCTTTTGTGATGGGCGATTGAGAGGCCATGAGAAATTTGGCTCTTGCCAGCAAGGTGTAGCAGCTACTTTTACTAAAGACTTTCATTACATTGTATTTGGAGCCCCGGGTACTTATAACTGGAAAGGGATTGTTCGTGTAGAGCAAAAGAATAACACTTTTTTTGACATGAACATCTTTGAAGATGGGCCTTATGAAGTTGGTGGAGAGACTGAGCATGATGAAAGTCTCGTTCCTGTTCCTGCTAACAGTTACTTAGGTTTTTCTTTGGACTCAGGGAAAGGTATTGTTTCTAAAGATGAGATCACTTTTGTATCTGGTGCTCCCAGAGCCAATCACAGTGGAGCCGTGGTTTTGCTGAAGAGAGACATGAAGTCTGCACATCTCCTCCCTGAGCACATATTCGATGGAGAAGGTCTGGCCTCTTCATTTGGCTATGATGTGGCGGTGGTGGACCTCAACAAGGATGGGTGGCAAGATATAGTTATTGGAGCCCCACAGTATTTTGATAGAGATGGAGAAGTTGGAGGTGCAGTGTATGTCTACATGAACCAGCAAGGCAGATGGAATAATGTGAAGCCAATTCGTCTTAATGGAACCAAAGATTCTATGTTTGGCATTGCAGTAAAAAATATTGGAGATATTAATCAAGATGGCTACCCAGATATTGCAGTTGGAGCTCCGTATGATGACTTGGGAAAGGTTTTTATCTATCATGGATCTGCAAATGGAATAAATACCAAACCAACACAGGTTCTCAAGGGTATATCACCTTATTTTGGATATTCAATTGCTGGAAACATGGACCTTGATCGAAATTCCTACCCTGATGTTGCTGTTGGTTCCCTCTCAGATTCAGTAACTATTTTCAGATCCCGGCCTGTGATTAATATTCAGAAAACCATCACAGTAACTCCTAACAGAATTGACCTCCGCCAGAAAACAGCGTGTGGGGCGCCTAGTGGGATATGCCTCCAGGTTAAATCCTGTTTTGAATATACTGCTAACCCCGCTGGTTATAATCCTTCAATATCAATTGTGGGCACACTTGAAGCTGAAAAAGAAAGAAGAAAATCTGGGCTATCCTCAAGAGTTCAGTTTCGAAACCAAGGTTCTGAGCCCAAATATACTCAAGAACTAACTCTGAAGAGGCAGAAACAGAAAGTGTGCATGGAGGAAACCCTGTGGCTACAGGATAATATCAGAGATAAACTGCGTCCCATTCCCATAACTGCCTCAGTGGAGATCCAAGAGCCAAGCTCTCGTAGGCGAGTGAATTCACTTCCAGAAGTTCTTCCAATTCTGAATTCAGATGAACCCAAGACAGCTCATATTGATGTTCACTTCTTAAAAGAGGGATGTGGAGACGACAATGTATGTAACAGCAACCTTAAACTAGAATATAAATTTTGCACCCGAGAAGGAAATCAAGACAAATTTTCTTATTTACCAATTCAAAAAGGTGTACCAGAACTAGTTCTAAAAGATCAGAAGGATATTGCTTTAGAAATAACAGTGACAAACAGCCCTTCCAACCCAAGGAATCCCACAAAAGATGGCGATGACGCCCATGAGGCTAAACTGATTGCAACGTTTCCAGACACTTTAACCTATTCTGCATATAGAGAACTGAGGGCTTTCCCTGAGAAACAGTTGAGTTGTGTTGCCAACCAGAATGGCTCGCAAGCTGACTGTGAGCTCGGAAATCCTTTTAAAAGAAATTCAAATGTCACTTTTTATTTGGTTTTAAGTACAACTGAAGTCACCTTTGACACCCCAGATCTGGATATTAATCTGAAGTTAGAAACAACAAGCAATCAAGATAATTTGGCTCCAATTACAGCTAAAGCAAAAGTGGTTATTGAACTGCTTTTATCGGTCTCGGGAGTTGCTAAACCTTCCCAGGTGTATTTTGGAGGTACAGTTGTTGGCGAGCAAGCTATGAAATCTGAAGATGAAGTGGGAAGTTTAATAGAGTATGAATTCAGGGTAATAAACTTAGGTAAACCTCTTACAAACCTCGGCACAGCAACCTTGAACATTCAGTGGCCAAAAGAAATTAGCAATGGGAAATGGTTGCTTTATTTGGTGAAAGTAGAATCCAAAGGATTGGAAAAGGTAACTTGTGAGCCACAAAAGGAGATAAACTCCCTGAACCTAACGGAGTCTCACAACTCAAGAAAGAAACGGGAAATTACTGAAAAACAGATAGATGATAACAGAAAATTTTCTTTATTTGCTGAAAGAAAATACCAGACTCTTAACTGTAGCGTGAACGTGAACTGTGTGAACATCAGATGCCCGCTGCGGGGGCTGGACAGCAAGGCGTCTCTTATTTTGCGCTCGAGGTTATGGAACAGCACATTTCTAGAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTTCGAGTGACTGTGTTTCCCTCAAAGACTGTAGCTCAGTATTCGGGAGTACCTTGGTGGATCATCCTAGTGGCTATTCTCGCTGGGATCTTGATGCTTGCTTTATTAGTGTTTATACTATGGAAGTGTGGTTTCTTCAAGAGAAATAAGAAAGATCATTATGATGCCACATATCACAAGGCTGAGATCCATGCTCAGCCATCTGATAAAGAGAGGCTTACTTCTGATGCATAGTATTGATCTACTTCTGTAATTGTGTGGATTCTTTAAACGCTCTAGGTACGATGACAGTGTTCCCCGATACCATGCTGTAAGGATCCGGAAAGAAGAGCGAGAGATCAAAGATGAAAAGTATATTGATAACCTTGAAAAAAAACAGTGGATCACAAAGTGGAACGAAAATGAAAGCTACTCATAGCGGGGGCCTAAAAAAAAAAAGCTTCACAGTACCCAAACTGCTTTTTCCAACTCAGAAATTCAATTTGGATTTAAAAGCCTGCTCAATCCCTGAGGACTGATTTCAGAGTGACTACACACAGTACGAACCTACAGTTTTAACTGTGGATATTGTTACGTAGCCTAAGGCTCCTGTTTTGCACAGCCAAATTTAAAACTGTTGGAATGGATTTTTCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTATTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGAAGGGCCTGCCCAGTTGCACTCAGGTGACATCCTCCAGATAGTGTAGCTGAGGAGGCACCTACACTCACCTGCACTAACAGAGTGGCCGTCCTAACCTCGGGCCTGCTGCGCAGACGTCCATCACGTTAGCTGTCCCACATCACAAGACTATGCCATTGGGGTAGTTGTGTTTCAACGGAAAGTGCTGTCTTAAACTAAATGTGCAATAGAAGGTGATGTTGCCATCCTACCGTCTTTTCCTGTTTCCTAGCTGTGTGAATACCTGCTCACGTCAAATGCATACAAGTTTCATTCTCCCTTTCACTAAAACACACAGGTGCAACAGACTTGAATGCTAGTTATACTTATTTGTATATGGTATTTATTTTTTCTTTTCTTTACAAACCATTTTGTTATTGACTAACAGGCCAAAGAGTCTCCAGTTTACCCTTCAGGTTGGTTTAATCAATCAGAATTAGAGCATGGGAGGTCATCACTTTGACCTAAATTATTTACTGCAAAAAGAAAATCTTTATAAATGTACCAGAGAGAGTTGTTTTAATAACTTATCTATAAACTATAACCTCTCCTTCATGACAGCCTCCACCCCACAACCCAAAAGGTTTAAGAAATAGAATTATAACTGTAAAGATGTTTATTTCAGGCATTGGATATTTTTTACTTTAGAAGCCTGCATAATGTTTCTGGATTTCATACTGTAACATTCAGGAATTCTTGGAGAAAATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCACTGCTGCAAATACTGTATATTCAGGACTTGAAAGAAATGGTGAATGCCTATGGTGGATCCAAACTGATCCAGTATAAGACTACTGAATCTGCTACCAAAACAGTTAATCAGTGAGTCGATGTTCTATTTTTTGTTTTGTTTCCTCCCCTATCTGTATTCCCAAAAATTACTTTGGGGCTAATTTAACAAGAACTTTAAATTGTGTTTTAATTGTAAAAATGGCAGGGGGTGGAATTATTACTCTATACATTCAACAGAGACTGAATAGATATGAAAGCTGATTTTTTTTAATTACCATGCTTCACAATGTTAAGTTATATGGGGAGCAACAGCAAACAGGTGCTAATTTGTTTTGGATATAGTATAAGCAGTGTCTGTGTTTTGAAAGAATAGAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGGGGCTTTTTTCTTTTCGGAAATCTTAAACCTTAAGATACTAAGGACGTTGTTTTGGTTGTACTTTGGAATTCTTAGTCACAAAATATATTTTGTTTACAAAAATTTCTGTAAAACAGGTTATAACAGTGTTTAAAGTCTCAGTTTCTTGCTTGGGGAACTTGTGTCCCTAATGTGTTTAGATTGCTAGATTGCTAAGGAGCTGATACTTTGACAGTGTTTTTAGACCTGTGTTACTAAAAAAAAGATGAATGTCCTGAAAAGGGTGTTGGGAGGGTGGTTCAACAAAGAAACAAAGATGTTATGGTGTTTAGATTTATGGTTGTTAAAAATGTCATCTCAAGTCAAGTCACTGGTCTGTTTGCATTTGATACATTTTTGTACTAACTAGCATTGTAAAATTATTTCATGATTAGAAATTACCTGTGGATATTTGTATAAAAGTGTGAAATAAATTTTTTATAAAAGTGTTCATTGTTTCGTAACACAGCATTGTATATGTGAAGCAAACTCTAAAATTATAAATGACAACCTGAATTATCTATTTCATCAAACCAAAGTTCAGTGTTTTTATTTTTGGTGTCTCATGTAATCTCAGATCAGCCAAAGATACTAGTGCCAAAGCAATGGGATTCGGGGTTTTTTTCTGTTTTCGCTCTATGTAGGTGATCCTCAAGTCTTTCATTTTCCTTCTTTATGATTAAAAGAAACCTACAGGTATTTAACAACCTA | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_000210.3 | ITGA6 | 2 | TTGATAAAACGCCTGCGAGTCTCCAGAGAACAACGGGCTCATTCAGCGGTCGCGAGCTGCCCGCGAGGGGGAGCGGCCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGCGCAGCGGCGAGAGGAGGCGAAGGTGGCTGCGGTAGCAGCAGCGCGGCAGCCTCGGACCCAGCCCGGAGCGCAGGGCGGCCGCTGCAGGTCCCCGCTCCCCTCCCCGTGCGTCCGCCCATGGCCGCCGCCGGGCAGCTGTGCTTGCTCTACCTGTCGGCGGGGCTCCTGTCCCGGCTCGGCGCAGCCTTCAACTTGGACACTCGGGAGGACAACGTGATCCGGAAATATGGAGACCCCGGGAGCCTCTTCGGCTTCTCGCTGGCCATGCACTGGCAACTGCAGCCCGAGGACAAGCGGCTGTTGCTCGTGGGGGCCCCGCGGGCAGAAGCGCTTCCACTGCAGAGAGCCAACAGAACGGGAGGGCTGTACAGCTGCGACATCACCGCCCGGGGGCCATGCACGCGGATCGAGTTTGATAACGATGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGACATGTGCTCACCGATATGAAAAAAGGCAGCATGTTAATACGAAGCAGGAATCCCGAGACATCTTTGGGCGGTGTTATGTCCTGAGTCAGAATCTCAGGATTGAAGACGATATGGATGGGGGAGATTGGAGCTTTTGTGATGGGCGATTGAGAGGCCATGAGAAATTTGGCTCTTGCCAGCAAGGTGTAGCAGCTACTTTTACTAAAGACTTTCATTACATTGTATTTGGAGCCCCGGGTACTTATAACTGGAAAGGGATTGTTCGTGTAGAGCAAAAGAATAACACTTTTTTTGACATGAACATCTTTGAAGATGGGCCTTATGAAGTTGGTGGAGAGACTGAGCATGATGAAAGTCTCGTTCCTGTTCCTGCTAACAGTTACTTAGGTTTTTCTTTGGACTCAGGGAAAGGTATTGTTTCTAAAGATGAGATCACTTTTGTATCTGGTGCTCCCAGAGCCAATCACAGTGGAGCCGTGGTTTTGCTGAAGAGAGACATGAAGTCTGCACATCTCCTCCCTGAGCACATATTCGATGGAGAAGGTCTGGCCTCTTCATTTGGCTATGATGTGGCGGTGGTGGACCTCAACAAGGATGGGTGGCAAGATATAGTTATTGGAGCCCCACAGTATTTTGATAGAGATGGAGAAGTTGGAGGTGCAGTGTATGTCTACATGAACCAGCAAGGCAGATGGAATAATGTGAAGCCAATTCGTCTTAATGGAACCAAAGATTCTATGTTTGGCATTGCAGTAAAAAATATTGGAGATATTAATCAAGATGGCTACCCAGATATTGCAGTTGGAGCTCCGTATGATGACTTGGGAAAGGTTTTTATCTATCATGGATCTGCAAATGGAATAAATACCAAACCAACACAGGTTCTCAAGGGTATATCACCTTATTTTGGATATTCAATTGCTGGAAACATGGACCTTGATCGAAATTCCTACCCTGATGTTGCTGTTGGTTCCCTCTCAGATTCAGTAACTATTTTCAGATCCCGGCCTGTGATTAATATTCAGAAAACCATCACAGTAACTCCTAACAGAATTGACCTCCGCCAGAAAACAGCGTGTGGGGCGCCTAGTGGGATATGCCTCCAGGTTAAATCCTGTTTTGAATATACTGCTAACCCCGCTGGTTATAATCCTTCAATATCAATTGTGGGCACACTTGAAGCTGAAAAAGAAAGAAGAAAATCTGGGCTATCCTCAAGAGTTCAGTTTCGAAACCAAGGTTCTGAGCCCAAATATACTCAAGAACTAACTCTGAAGAGGCAGAAACAGAAAGTGTGCATGGAGGAAACCCTGTGGCTACAGGATAATATCAGAGATAAACTGCGTCCCATTCCCATAACTGCCTCAGTGGAGATCCAAGAGCCAAGCTCTCGTAGGCGAGTGAATTCACTTCCAGAAGTTCTTCCAATTCTGAATTCAGATGAACCCAAGACAGCTCATATTGATGTTCACTTCTTAAAAGAGGGATGTGGAGACGACAATGTATGTAACAGCAACCTTAAACTAGAATATAAATTTTGCACCCGAGAAGGAAATCAAGACAAATTTTCTTATTTACCAATTCAAAAAGGTGTACCAGAACTAGTTCTAAAAGATCAGAAGGATATTGCTTTAGAAATAACAGTGACAAACAGCCCTTCCAACCCAAGGAATCCCACAAAAGATGGCGATGACGCCCATGAGGCTAAACTGATTGCAACGTTTCCAGACACTTTAACCTATTCTGCATATAGAGAACTGAGGGCTTTCCCTGAGAAACAGTTGAGTTGTGTTGCCAACCAGAATGGCTCGCAAGCTGACTGTGAGCTCGGAAATCCTTTTAAAAGAAATTCAAATGTCACTTTTTATTTGGTTTTAAGTACAACTGAAGTCACCTTTGACACCCCAGATCTGGATATTAATCTGAAGTTAGAAACAACAAGCAATCAAGATAATTTGGCTCCAATTACAGCTAAAGCAAAAGTGGTTATTGAACTGCTTTTATCGGTCTCGGGAGTTGCTAAACCTTCCCAGGTGTATTTTGGAGGTACAGTTGTTGGCGAGCAAGCTATGAAATCTGAAGATGAAGTGGGAAGTTTAATAGAGTATGAATTCAGGGTAATAAACTTAGGTAAACCTCTTACAAACCTCGGCACAGCAACCTTGAACATTCAGTGGCCAAAAGAAATTAGCAATGGGAAATGGTTGCTTTATTTGGTGAAAGTAGAATCCAAAGGATTGGAAAAGGTAACTTGTGAGCCACAAAAGGAGATAAACTCCCTGAACCTAACGGAGTCTCACAACTCAAGAAAGAAACGGGAAATTACTGAAAAACAGATAGATGATAACAGAAAATTTTCTTTATTTGCTGAAAGAAAATACCAGACTCTTAACTGTAGCGTGAACGTGAACTGTGTGAACATCAGATGCCCGCTGCGGGGGCTGGACAGCAAGGCGTCTCTTATTTTGCGCTCGAGGTTATGGAACAGCACATTTCTAGAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTTCGAGTGACTGTGTTTCCCTCAAAGACTGTAGCTCAGTATTCGGGAGTACCTTGGTGGATCATCCTAGTGGCTATTCTCGCTGGGATCTTGATGCTTGCTTTATTAGTGTTTATACTATGGAAGTGTGGTTTCTTCAAGAGAAATAAGAAAGATCATTATGATGCCACATATCACAAGGCTGAGATCCATGCTCAGCCATCTGATAAAGAGAGGCTTACTTCTGATGCATAGTATTGATCTACTTCTGTAATTGTGTGGATTCTTTAAACGCTCTAGGTACGATGACAGTGTTCCCCGATACCATGCTGTAAGGATCCGGAAAGAGCGAGAGATCAAAGATGAAAAGTATATTGATAACCTTGAAAAAAAACAGTGGATCACAAAGTGGAACGAAAATGAAAGCTACTCATAGCGGGGGCCTAAAAAAAAAAAGCTTCACAGTACCCAAACTGCTTTTTCCAACTCAGAAATTCAATTTGGATTTAAAAGCCTGCTCAATCCCTGAGGACTGATTTCAGAGTGACTACACACAGTACGAACCTACAGTTTTAACTGTGGATATTGTTACGTAGCCTAAGGCTCCTGTTTTGCACAGCCAAATTTAAAACTGTTGGAATGGATTTTTCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTATTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGAAGGGCCTGCCCAGTTGCACTCAGGTGACATCCTCCAGATAGTGTAGCTGAGGAGGCACCTACACTCACCTGCACTAACAGAGTGGCCGTCCTAACCTCGGGCCTGCTGCGCAGACGTCCATCACGTTAGCTGTCCCACATCACAAGACTATGCCATTGGGGTAGTTGTGTTTCAACGGAAAGTGCTGTCTTAAACTAAATGTGCAATAGAAGGTGATGTTGCCATCCTACCGTCTTTTCCTGTTTCCTAGCTGTGTGAATACCTGCTCACGTCAAATGCATACAAGTTTCATTCTCCCTTTCACTAAAACACACAGGTGCAACAGACTTGAATGCTAGTTATACTTATTTGTATATGGTATTTATTTTTTCTTTTCTTTACAAACCATTTTGTTATTGACTAACAGGCCAAAGAGTCTCCAGTTTACCCTTCAGGTTGGTTTAATCAATCAGAATTAGAGCATGGGAGGTCATCACTTTGACCTAAATTATTTACTGCAAAAAGAAAATCTTTATAAATGTACCAGAGAGAGTTGTTTTAATAACTTATCTATAAACTATAACCTCTCCTTCATGACAGCCTCCACCCCACAACCCAAAAGGTTTAAGAAATAGAATTATAACTGTAAAGATGTTTATTTCAGGCATTGGATATTTTTTACTTTAGAAGCCTGCATAATGTTTCTGGATTTCATACTGTAACATTCAGGAATTCTTGGAGAAAATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCACTGCTGCAAATACTGTATATTCAGGACTTGAAAGAAATGGTGAATGCCTATGGTGGATCCAAACTGATCCAGTATAAGACTACTGAATCTGCTACCAAAACAGTTAATCAGTGAGTCGATGTTCTATTTTTTGTTTTGTTTCCTCCCCTATCTGTATTCCCAAAAATTACTTTGGGGCTAATTTAACAAGAACTTTAAATTGTGTTTTAATTGTAAAAATGGCAGGGGGTGGAATTATTACTCTATACATTCAACAGAGACTGAATAGATATGAAAGCTGATTTTTTTTAATTACCATGCTTCACAATGTTAAGTTATATGGGGAGCAACAGCAAACAGGTGCTAATTTGTTTTGGATATAGTATAAGCAGTGTCTGTGTTTTGAAAGAATAGAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGGGGCTTTTTTCTTTTCGGAAATCTTAAACCTTAAGATACTAAGGACGTTGTTTTGGTTGTACTTTGGAATTCTTAGTCACAAAATATATTTTGTTTACAAAAATTTCTGTAAAACAGGTTATAACAGTGTTTAAAGTCTCAGTTTCTTGCTTGGGGAACTTGTGTCCCTAATGTGTTTAGATTGCTAGATTGCTAAGGAGCTGATACTTTGACAGTGTTTTTAGACCTGTGTTACTAAAAAAAAGATGAATGTCCTGAAAAGGGTGTTGGGAGGGTGGTTCAACAAAGAAACAAAGATGTTATGGTGTTTAGATTTATGGTTGTTAAAAATGTCATCTCAAGTCAAGTCACTGGTCTGTTTGCATTTGATACATTTTTGTACTAACTAGCATTGTAAAATTATTTCATGATTAGAAATTACCTGTGGATATTTGTATAAAAGTGTGAAATAAATTTTTTATAAAAGTGTTCATTGTTTCGTAACACAGCATTGTATATGTGAAGCAAACTCTAAAATTATAAATGACAACCTGAATTATCTATTTCATCAAACCAAAGTTCAGTGTTTTTATTTTTGGTGTCTCATGTAATCTCAGATCAGCCAAAGATACTAGTGCCAAAGCAATGGGATTCGGGGTTTTTTTCTGTTTTCGCTCTATGTAGGTGATCCTCAAGTCTTTCATTTTCCTTCTTTATGATTAAAAGAAACCTACAGGTATTTAACAACCTA | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr2:172504156 AAAG:A |
NM_000207.2 | INS | 11 | AGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCCTCTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGTGGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTGCAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGCCCGCAGGCAGCCCCACACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGAACCAGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_000207.2 | INS | 11 | AGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCCTCTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGTGGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTGCAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGCCCGCAGGCAGCCCCACACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAGGCCCTTGAACCAGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:2159792 T:C,mRNA stability |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225482 TTTTTA:T,Impact on polyadenylation signal |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAGAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225484 T:C,Impact on polyadenylation signal |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAACAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225487 A:G,Impact on polyadenylation signal |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAAAAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225487 A:T,Impact on polyadenylation signal |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCCTAATAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225491 GGCAGAATCCAGAT:G,Impact on polyadenylation signal |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAACGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225565 T:G,Altered miRNA binding |
NM_000518.4 | HBB | 11 | ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGGTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0,
0,
1,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr11:5225591 G:C |
NM_001281503.1 | SLITRK1 | 13 | CGCGCTCTCTTCCTCCCTCAGACAACTCGCCCCCCGCCCTCCGCCCCCCTCCACGTAATTCCGAAAGAGCAGAAGAAAGAGAAGGAGAACAGGAAAAGAAGAGCTAGTAAGCGAGAGCGAGAGCACAGAAAAGAAAAAAAAAAGCCTTAAGAGGACCGAAGGGGAGGAAAGGAAAAGGATGGACAACCACAAAACGCAGCGATTGCGGAAATTTTCCAGCGCCATTGGCTGGGCAGCGTGAGTCCTTCGGTCGGGCGTGATTTCAGCACCGGGGGAACTGGACAGCACCTCGGGGGGACTTCTGGGCAACCCGCAACCACAGCAAGAACTCCACCAGCAGCCTCAACAACAGAAGCCGCGGAAAACCCTGCTTTGTATCAGAGAGGCAAGGATGGTCGCTGTTACTTTGTGATGAGATCGGGGATGAATTGCTCGCTTTAAAAATGCTGCTTTGGATTCTGTTGCTGGAGACGTCTCTTTGTTTTGCCGCTGGAAACGTTACAGGGGACGTTTGCAAAGAGAAGATCTGTTCCTGCAATGAGATAGAAGGGGACCTACACGTAGACTGTGAAAAAAAGGGCTTCACAAGTCTGCAGCGTTTCACTGCCCCGACTTCCCAGTTTTACCATTTATTTCTGCATGGCAATTCCCTCACTCGACTTTTCCCTAATGAGTTCGCTAACTTTTATAATGCGGTTAGTTTGCACATGGAAAACAATGGCTTGCATGAAATCGTTCCGGGGGCTTTTCTGGGGCTGCAGCTGGTGAAAAGGCTGCACATCAACAACAACAAGATCAAGTCTTTTCGAAAGCAGACTTTTCTGGGGCTGGACGATCTGGAATATCTCCAGGCTGATTTTAATTTATTACGAGATATAGACCCGGGGGCCTTCCAGGACTTGAACAAGCTGGAGGTGCTCATTTTAAATGACAATCTCATCAGCACCCTACCTGCCAACGTGTTCCAGTATGTGCCCATCACCCACCTCGACCTCCGGGGTAACAGGCTGAAAACGCTGCCCTATGAGGAGGTCTTGGAGCAAATCCCTGGTATTGCGGAGATCCTGCTAGAGGATAACCCTTGGGACTGCACCTGTGATCTGCTCTCCCTGAAAGAATGGCTGGAAAACATTCCCAAGAATGCCCTGATCGGCCGAGTGGTCTGCGAAGCCCCCACCAGACTGCAGGGTAAAGACCTCAATGAAACCACCGAACAGGACTTGTGTCCTTTGAAAAACCGAGTGGATTCTAGTCTCCCGGCGCCCCCTGCCCAAGAAGAGACCTTTGCTCCTGGACCCCTGCCAACTCCTTTCAAGACAAATGGGCAAGAGGATCATGCCACACCAGGGTCTGCTCCAAACGGAGGTACAAAGATCCCAGGCAACTGGCAGATCAAAATCAGACCCACAGCAGCGATAGCGACGGGTAGCTCCAGGAACAAACCCTTAGCTAACAGTTTACCCTGCCCTGGGGGCTGCAGCTGCGACCACATCCCAGGGTCGGGTTTAAAGATGAACTGCAACAACAGGAACGTGAGCAGCTTGGCTGATTTGAAGCCCAAGCTCTCTAACGTGCAGGAGCTTTTCCTACGAGATAACAAGATCCACAGCATCCGAAAATCGCACTTTGTGGATTACAAGAACCTCATTCTGTTGGATCTGGGCAACAATAACATCGCTACTGTAGAGAACAACACTTTCAAGAACCTTTTGGACCTCAGGTGGCTATACATGGATAGCAATTACCTGGACACGCTGTCCCGGGAGAAATTCGCGGGGCTGCAAAACCTAGAGTACCTGAACGTGGAGTACAACGCTATCCAGCTCATCCTCCCGGGCACTTTCAATGCCATGCCCAAACTGAGGATCCTCATTCTCAACAACAACCTGCTGAGGTCCCTGCCTGTGGACGTGTTCGCTGGGGTCTCGCTCTCTAAACTCAGCCTGCACAACAATTACTTCATGTACCTCCCGGTGGCAGGGGTGCTGGACCAGTTAACCTCCATCATCCAGATAGACCTCCACGGAAACCCCTGGGAGTGCTCCTGCACAATTGTGCCTTTCAAGCAGTGGGCAGAACGCTTGGGTTCCGAAGTGCTGATGAGCGACCTCAAGTGTGAGACGCCGGTGAACTTCTTTAGAAAGGATTTCATGCTCCTCTCCAATGACGAGATCTGCCCTCAGCTGTACGCTAGGATCTCGCCCACGTTAACTTCGCACAGTAAAAACAGCACTGGGTTGGCGGAGACCGGGACGCACTCCAACTCCTACCTAGACACCAGCAGGGTGTCCATCTCGGTGTTGGTCCCGGGACTGCTGCTGGTGTTTGTCACCTCCGCCTTCACCGTGGTGGGCATGCTCGTGTTTATCCTGAGGAACCGAAAGCGGTCCAAGAGACGAGATGCCAACTCCTCCGCGTCCGAGATTAATTCCCTACAGACAGTCTGTGACTCTTCCTACTGGCACAATGGGCCTTACAACGCAGATGGGGCCCACAGAGTGTATGACTGTGGCTCTCACTCGCTCTCAGACTAAGACCCCAACCCCAATAGGGGAGGGCAGAGGGAAGGCGATACATCCTTCCCCACCGCAGGCACCCCGGGGGCTGGAGGGGCGTGTACCCAAATCCCCGCGCCATCAGCCTGGATGGGCATAAGTAGATAAATAACTGTGAGCTCGCACAACCGAAAGGGCCTGACCCCTTACTTAGCTCCCTCCTTGAAACAAAGAGCAGACTGTGGAGAGCTGGGAGAGCGCAGCCAGCTCGCTCTTTGCTGAGAGCCCCTTTTGACAGAAAGCCCAGCACGACCCTGCTGGAAGAACTGACAGTGCCCTCGCCCTCGGCCCCGGGGCCTGTGGGGTTGGATGCCGCGGTTCTATACATATATACATATATCCACATCTATATAGAGAGATAGATATCTATTTTTCCCCTGTGGATTAGCCCCGTGATGGCTCCCTGTTGGCTACGCAGGGATGGGCAGTTGCACGAAGGCATGAATGTATTGTAAATAAGTAACTTTGACTTCTGACAAAAAACAAAAAGTGCTGCATGGCTCGCATGGAATCCACGCGCTCCAGGGACTCTGCCCGCCCCCGCGACTGGAGACGGCATCTCGTTCACAGCACCCACCCTCTTACCTGATAAGTTCCATCGTATCAAACTTTCTATAAACAAAATACAGTATAATCAGAAAGTGCCATTTCGCCATTATTTGTGATCGGTAGGCAGTTCAGAGCATAAGTTAACTGTGAAAAAAATGTAAAGGTTTTATTTAGGACATTTGCATGGCTAGTCATCAGTCCATTTTATGAGTTAACAATGTATTTTGTTGAGGGAAGTTTTTAGGGGTTGTTTTGGGTTCTTTTATTTTGATGGTGATGTTTTATTTTATTTTATTTTTTTCAGGGGGTCTTTTTTTTAATACATATCCAATAATGCCTTCCATCTGAATGTAAAATAAGTACCCATGATTTCTATTATAGTATCAGTGTAATTATTTAAAAAATGATTTTGAGGCAGTTAAGCATGACCAATTAATGTCACTCTAGTGCTTAGGCTGCGATCCTATGGTAGCAATTCTGTGCTGGTATAAATCTTACTTATAAAGTAGGAAAAGAGAACCGAGGAAGCACGTGAAACTTACTAATTCTATTCGAGGATTTTATAATGGCATATTTTTTCAGTATTAAAGCGAAAATGTTTTCAACTCTGGGTCCTTACCTTTTTCCAGCTTCATATTTGCAAGTGGTAAATTGGATTTGCGGTGGAAGAGACAGGGGAGGGAAACGGTTGGGGTTAGATCCCTTCCTGAGCTACATTAAGGCTCTTTCTCTAATCGCCTTACTTAGCTTTTTACCCTTTAAGTAGCTCCTCTTCCCTCGCCCCCACCCTCTACCCCACCCCCACCTTCGCTCAGACTTTACCGGCTTTCCCCAGTCCATAAAGGTCTTGCCCCAACACTCACCCCTTCTTTTTTTCCCCTCTCCAAATGCAGCAGTGAATCCCTTTATTAATACTGGAAATCCCTCTCTGCTGCTTTTGTTGGTGCTGCCCACACTGCAGATATATTAAGGATGTTAGGAGAGATTTGATTTAATTGACTCTGCCTAGATAGGTCTCATTAAACAGAGTGGAGATTTCATTGGTCAGCACTCCTCAATGAAAGACAGACCTAATGACTGGCATTTGAGATGCTGCTGGCATTTTGAATTCAACATCTGCTGAAAACGGTAAAACTAATTAGTGCCCACCCACCCTCCCCGCCCCAGCAACTGCATATTGAAATTTGTTAAAGCACTCATCTTTATGGAAATTAATCATTATCCTAAAGAAGTGTTTCTCTCCCATCATCCGGATTTCTGGTTGTGGCCCAGCAATTAACAAAAACAGCTTCAACTGTTCGAATTTTATGAACCAATGTAACTCTGGCCTCAATCATATTCCTCTGGGATTTCTAAACAGCAGTTAAGCTACAAAAAGCAAACAAAACCACACATATTGATGGAGTCTGCATTCCACCACATATCCACCCTTGAGAAGTATGTCAAAAGACTGCAGACTATAGATTTTTTTTTAATATAGGATTATAAATCAGCTAGTGAAAGACCTCAGAGCAGTTGTAAGTAGATCTGCCATCTAGAACTCATATTCTAAAGGGAAGTGATTTCTCAGAACAGTGATGTTCTGGAATATGTATTATTTATTTTAACACTTTTTTAATAAAATCTTTATTATAAACCATGA | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 0 | wild-type |
NM_001281503.1 | SLITRK1 | 13 | CGCGCTCTCTTCCTCCCTCAGACAACTCGCCCCCCGCCCTCCGCCCCCCTCCACGTAATTCCGAAAGAGCAGAAGAAAGAGAAGGAGAACAGGAAAAGAAGAGCTAGTAAGCGAGAGCGAGAGCACAGAAAAGAAAAAAAAAAGCCTTAAGAGGACCGAAGGGGAGGAAAGGAAAAGGATGGACAACCACAAAACGCAGCGATTGCGGAAATTTTCCAGCGCCATTGGCTGGGCAGCGTGAGTCCTTCGGTCGGGCGTGATTTCAGCACCGGGGGAACTGGACAGCACCTCGGGGGGACTTCTGGGCAACCCGCAACCACAGCAAGAACTCCACCAGCAGCCTCAACAACAGAAGCCGCGGAAAACCCTGCTTTGTATCAGAGAGGCAAGGATGGTCGCTGTTACTTTGTGATGAGATCGGGGATGAATTGCTCGCTTTAAAAATGCTGCTTTGGATTCTGTTGCTGGAGACGTCTCTTTGTTTTGCCGCTGGAAACGTTACAGGGGACGTTTGCAAAGAGAAGATCTGTTCCTGCAATGAGATAGAAGGGGACCTACACGTAGACTGTGAAAAAAAGGGCTTCACAAGTCTGCAGCGTTTCACTGCCCCGACTTCCCAGTTTTACCATTTATTTCTGCATGGCAATTCCCTCACTCGACTTTTCCCTAATGAGTTCGCTAACTTTTATAATGCGGTTAGTTTGCACATGGAAAACAATGGCTTGCATGAAATCGTTCCGGGGGCTTTTCTGGGGCTGCAGCTGGTGAAAAGGCTGCACATCAACAACAACAAGATCAAGTCTTTTCGAAAGCAGACTTTTCTGGGGCTGGACGATCTGGAATATCTCCAGGCTGATTTTAATTTATTACGAGATATAGACCCGGGGGCCTTCCAGGACTTGAACAAGCTGGAGGTGCTCATTTTAAATGACAATCTCATCAGCACCCTACCTGCCAACGTGTTCCAGTATGTGCCCATCACCCACCTCGACCTCCGGGGTAACAGGCTGAAAACGCTGCCCTATGAGGAGGTCTTGGAGCAAATCCCTGGTATTGCGGAGATCCTGCTAGAGGATAACCCTTGGGACTGCACCTGTGATCTGCTCTCCCTGAAAGAATGGCTGGAAAACATTCCCAAGAATGCCCTGATCGGCCGAGTGGTCTGCGAAGCCCCCACCAGACTGCAGGGTAAAGACCTCAATGAAACCACCGAACAGGACTTGTGTCCTTTGAAAAACCGAGTGGATTCTAGTCTCCCGGCGCCCCCTGCCCAAGAAGAGACCTTTGCTCCTGGACCCCTGCCAACTCCTTTCAAGACAAATGGGCAAGAGGATCATGCCACACCAGGGTCTGCTCCAAACGGAGGTACAAAGATCCCAGGCAACTGGCAGATCAAAATCAGACCCACAGCAGCGATAGCGACGGGTAGCTCCAGGAACAAACCCTTAGCTAACAGTTTACCCTGCCCTGGGGGCTGCAGCTGCGACCACATCCCAGGGTCGGGTTTAAAGATGAACTGCAACAACAGGAACGTGAGCAGCTTGGCTGATTTGAAGCCCAAGCTCTCTAACGTGCAGGAGCTTTTCCTACGAGATAACAAGATCCACAGCATCCGAAAATCGCACTTTGTGGATTACAAGAACCTCATTCTGTTGGATCTGGGCAACAATAACATCGCTACTGTAGAGAACAACACTTTCAAGAACCTTTTGGACCTCAGGTGGCTATACATGGATAGCAATTACCTGGACACGCTGTCCCGGGAGAAATTCGCGGGGCTGCAAAACCTAGAGTACCTGAACGTGGAGTACAACGCTATCCAGCTCATCCTCCCGGGCACTTTCAATGCCATGCCCAAACTGAGGATCCTCATTCTCAACAACAACCTGCTGAGGTCCCTGCCTGTGGACGTGTTCGCTGGGGTCTCGCTCTCTAAACTCAGCCTGCACAACAATTACTTCATGTACCTCCCGGTGGCAGGGGTGCTGGACCAGTTAACCTCCATCATCCAGATAGACCTCCACGGAAACCCCTGGGAGTGCTCCTGCACAATTGTGCCTTTCAAGCAGTGGGCAGAACGCTTGGGTTCCGAAGTGCTGATGAGCGACCTCAAGTGTGAGACGCCGGTGAACTTCTTTAGAAAGGATTTCATGCTCCTCTCCAATGACGAGATCTGCCCTCAGCTGTACGCTAGGATCTCGCCCACGTTAACTTCGCACAGTAAAAACAGCACTGGGTTGGCGGAGACCGGGACGCACTCCAACTCCTACCTAGACACCAGCAGGGTGTCCATCTCGGTGTTGGTCCCGGGACTGCTGCTGGTGTTTGTCACCTCCGCCTTCACCGTGGTGGGCATGCTCGTGTTTATCCTGAGGAACCGAAAGCGGTCCAAGAGACGAGATGCCAACTCCTCCGCGTCCGAGATTAATTCCCTACAGACAGTCTGTGACTCTTCCTACTGGCACAATGGGCCTTACAACGCAGATGGGGCCCACAGAGTGTATGACTGTGGCTCTCACTCGCTCTCAGACTAAGACCCCAACCCCAATAGGGGAGGGCAGAGGGAAGGCGATACATCCTTCCCCACCGCAGGCACCCCGGGGGCTGGAGGGGCGTGTACCCAAATCCCCGCGCCATCAGCCTGGATGGGCATAAGTAGATAAATAACTGTGAGCTCGCACAACCGAAAGGGCCTGACCCCTTACTTAGCTCCCTCCTTGAAACAAAGAGCAGACTGTGGAGAGCTGGGAGAGCGCAGCCAGCTCGCTCTTTGCTGAGAGCCCCTTTTGACAGAAAGCCCAGCACGACCCTGCTGGAAGAACTGACAGTGCCCTCGCCCTCGGCCCCGGGGCCTGTGGGGTTGGATGCCGCGGTTCTATACATATATACATATATCCACATCTATATAGAGAGATAGATATCTATTTTTCCCCTGTGGATTAGCCCCGTGATGGCTCCCTGTTGGCTACGCAGGGATGGGCAGTTGCACGAAGGCATGAATGTATTGTAAATAAGTAACTTTGACTTCTGACAAAAAACAAAAAGTGCTGCATGGCTCGCATGGAATCCACGCGCTCCAGGGACTCTGCCCGCCCCCGCGACTGGAGACGGCATCTCGTTCACAGCACCCACCCTCTTACCTGATAAGTTCCATCGTATCAAACTTTCTATAAACAAAATACAGTATAATCAGAAAGTGCCATTTCGCCATTATTTGTGATCAGTAGGCAGTTCAGAGCATAAGTTAACTGTGAAAAAAATGTAAAGGTTTTATTTAGGACATTTGCATGGCTAGTCATCAGTCCATTTTATGAGTTAACAATGTATTTTGTTGAGGGAAGTTTTTAGGGGTTGTTTTGGGTTCTTTTATTTTGATGGTGATGTTTTATTTTATTTTATTTTTTTCAGGGGGTCTTTTTTTTAATACATATCCAATAATGCCTTCCATCTGAATGTAAAATAAGTACCCATGATTTCTATTATAGTATCAGTGTAATTATTTAAAAAATGATTTTGAGGCAGTTAAGCATGACCAATTAATGTCACTCTAGTGCTTAGGCTGCGATCCTATGGTAGCAATTCTGTGCTGGTATAAATCTTACTTATAAAGTAGGAAAAGAGAACCGAGGAAGCACGTGAAACTTACTAATTCTATTCGAGGATTTTATAATGGCATATTTTTTCAGTATTAAAGCGAAAATGTTTTCAACTCTGGGTCCTTACCTTTTTCCAGCTTCATATTTGCAAGTGGTAAATTGGATTTGCGGTGGAAGAGACAGGGGAGGGAAACGGTTGGGGTTAGATCCCTTCCTGAGCTACATTAAGGCTCTTTCTCTAATCGCCTTACTTAGCTTTTTACCCTTTAAGTAGCTCCTCTTCCCTCGCCCCCACCCTCTACCCCACCCCCACCTTCGCTCAGACTTTACCGGCTTTCCCCAGTCCATAAAGGTCTTGCCCCAACACTCACCCCTTCTTTTTTTCCCCTCTCCAAATGCAGCAGTGAATCCCTTTATTAATACTGGAAATCCCTCTCTGCTGCTTTTGTTGGTGCTGCCCACACTGCAGATATATTAAGGATGTTAGGAGAGATTTGATTTAATTGACTCTGCCTAGATAGGTCTCATTAAACAGAGTGGAGATTTCATTGGTCAGCACTCCTCAATGAAAGACAGACCTAATGACTGGCATTTGAGATGCTGCTGGCATTTTGAATTCAACATCTGCTGAAAACGGTAAAACTAATTAGTGCCCACCCACCCTCCCCGCCCCAGCAACTGCATATTGAAATTTGTTAAAGCACTCATCTTTATGGAAATTAATCATTATCCTAAAGAAGTGTTTCTCTCCCATCATCCGGATTTCTGGTTGTGGCCCAGCAATTAACAAAAACAGCTTCAACTGTTCGAATTTTATGAACCAATGTAACTCTGGCCTCAATCATATTCCTCTGGGATTTCTAAACAGCAGTTAAGCTACAAAAAGCAAACAAAACCACACATATTGATGGAGTCTGCATTCCACCACATATCCACCCTTGAGAAGTATGTCAAAAGACTGCAGACTATAGATTTTTTTTTAATATAGGATTATAAATCAGCTAGTGAAAGACCTCAGAGCAGTTGTAAGTAGATCTGCCATCTAGAACTCATATTCTAAAGGGAAGTGATTTCTCAGAACAGTGATGTTCTGGAATATGTATTATTTATTTTAACACTTTTTTAATAAAATCTTTATTATAAACCATGA | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... | 1 | chr13:83878727 C:T,Altered miRNA binding |
End of preview. Expand
in Data Studio
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 formatchr{chr}:{position} {ref_base}:{alt_base}[,optional variant impact]orwild-typefor 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
- Downloads last month
- 20
Size of downloaded dataset files:
264 kB
Size of the auto-converted Parquet files:
264 kB
Number of rows:
235