regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM242_chr6_157284025_157328519 | 157311000 | T T |
TCATCATA others(5225): Show TCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCA GTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGG CCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCC CAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGC CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACAC CTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGC TCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCA TACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGC ACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAC CATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTC ATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGT GTGCACTCACCTGGCCTCATGATAGTGTACCAGTGTGCACTAACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGG CCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCATCATACTGCCC CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCATAGTGT GCGCTCACCTACCCTCATCATAGTGGCCCAGTGTGCACTCAACTAGCCTC ATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCATCATAGTGTCCCAGT GCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGCC TCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGTTCACACGG CTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCT GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCAGT GTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTACCC TCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCCAA GTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCCGG CCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGCCC CACTGTGCACTCACCTAGCCTCATCATAGTGCCTCAGTGTGCACTCACAT AGCCTCATCATAGTGCCCCAGTATGAGCTCACCTAGCCTCATCATAGTGC CCCAGTCTGCGCACACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCACATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGT GTCCCAGAGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTC ACCTAGCTTCATCATAGTGTCATAGTGGGAGCTCAACCGGCCTCATCATA GGGTCCCAGTGTGCACTCACCTAGCCTCATCATAATGCCCCAGTGTCCGC TCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCA TAGTGCCCCACTGTGCGCTCACATGGCCTCATCATAATGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCAAGTGTGCGCTCACCTGACCTCAT CACTGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCTCACCAAGCCTC ATCATAGAGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATATTGTCCCAGTGTGCACTCAACTACCC TCATCATAGTGTCCCAGTGTCCGCTCACCAAGCCTCATCATAGTGTCCCA GTGTGCAGTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAG CCTCACCATACTGTCTCAGTGTGCGCTCACCTAGCCTCATCATGGTGTCT CAGTGTGCGCTCACCTAGCCTCACCATGGTGTCCAAGTGTCCGCTCACCG AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTACCCTCATCATAGGGT CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGTGCTCAT CTAGCCTCAACAAAATGTCCCAGTGTGCAATCACCCGGAATTATCATAGT ACCCCAGTGTGCGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGTGCTC ACCTGGCCTCATCATAGTGCCTCAGTGTGCGCTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCTATTATCCGC TCACCTAGCCTCATCAAAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GCTCACCTAGCCTCATGATAGTGTCCCAGTGTGTGCTCGCCCAGCTTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAGTGTG CACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGTGCACTCACCGAGCCT GATCATAGTGTCCCAGGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAG TGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAGT CTCATCATAGTGCCCCAGGGTCCGCTCACCTAGCCTCATCAAAGTGTCCC AGTGGGTGCTCACCTAGCCTCATCATAGTGCCCCAGTCACCGCTCAACTA GCCTCATCATATTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTC CCAGTGTGCACTCACCTGCCTCATCATAGTGTCCCAGTGTGCGTTCACCC TGCCTCATCATAGTGACCCAGTCTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCAGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT GTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATA GGGCACCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTACAC TCACCTGGCCTCATTGTACTGTCCCAGTGTGCACTCACACGGCCTCATCA TAGTGTCCCAGTGGGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTAC GCTCACCTAGCCTCATCATAGTGTCGCAGTATACACTCAGCTAGCCTCAT CATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAAGGT GCGCTCATCCGGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCTGTGTGCAATCACCTAGCCTCATCATAGTTTCCCACT GTGTGCTCACCTGGCCTCATCATAGTGCCCCAGTTTGCACTCACCTGGCC TCATCATAGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCTTGATCATAGTGTCCCAGTATCCGCTCATTTAG CGTCATCATAGTGCCCCAGAATCCGCTCACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCAGCT AGCCTCATCATAGTGCCCTAGTGTGCGTTCACATAGCCTCATCATAGTAC CCCAGTTTCAGCTCACCGAGCCTCATCATAGTG |
intron_variant intron_variant |
MODIFIER | HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | 344 | 0.0058 | 5232 | c.327 others(5249): Show c.327+7781_327+7782insCACTATGATGAGGCTCGGTGAGCTGAAA CTGGGGTACTATGATGAGGCTATGTGAACGCACACTAGGGCACTATGATG AGGCTAGCTGAGCACACACTGGGGCACTATGATGAGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGGATTCTGGGGCACTATGA TGACGCTAAATGAGCGGATACTGGGACACTATGATCAAGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACACTAT GATGAGGCCAGGTGAGTGCAAACTGGGGCACTATGATGAGGCCAGGTGAG CACACAGTGGGAAACTATGATGAGGCTAGGTGATTGCACACAGGGACACT ATGATGAGGCTAGGTGAGTGCACACTGCGACACTATGATGAGGCCGGATG AGCGCACCTTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGCTGAGTGTATACTGCGACACTATGATGAGGCTAGG TGAGCGTACACTGGGACACTATGATGAGGCTAGGTGAGCGCCCACTGGGA CACTATGATGAGGCCGTGTGAGTGCACACTGGGACAGTACAATGAGGCCA GGTGAGTGTACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG TGCCCTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCACACACT GGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAG GCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCAGACTGGGTCACTATGATG AGGCAGGGTGAACGCACACTGGGACACTATGATGAGGCAGGTGAGTGCAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCAATATGAT GAGGCTAGTTGAGCGGTGACTGGGGCACTATGATGAGGCTAGGTGAGCAC CCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACCCTGGGGCACTATG ATGAGACTAGGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACACTGCGACACTATCATGAGGCCAGATGAGCGCACCCTGGGACACTA TGATCAGGCTCGGTGAGTGCACACTGGGACTCTATGATGAGGCTAGCTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGCACACACTGGGACAC TATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGGT GAGTGCACACTGGTCAGTATAATGAGGCCAGGTGAGTGTACACTGGGGCA CTATGATGAAGCTGGGCGAGCACACACTGGGACACTATCATGAGGCTAGG TGAGCGCACAATGGGACACTATGATGAGGTTAGGTGAGCGCACACTGGGG CAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACTTTGATGAGGCTA GGTGAGCGGATAATAGGACACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGAGGCACTATGATGAGGC CAGGTGAGCACACACTGGGACACTATGATGAGGCTAGATGAGCGCACACT GGGGTACTATGATAATTCCGGGTGATTGCACACTGGGACATTTTGTTGAG GCTAGATGAGCACACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACA CTGGGACCCTATGATGAGGGTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTCGGTGAGCGGACACTTGGACACCATGGTGAGGCTAGGTGAGCGCA CACTGAGACACCATGATGAGGCTAGGTGAGCGCACACTGAGACAGTATGG TGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGACTG CACACTGGGACACTATGATGAGGCTTGGTGAGCGGACACTGGGACACTAT GATGAGGGTAGTTGAGTGCACACTGGGACAATATGATGAGGCTAGGTGAG CGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACTCT ATGATGAGGCTTGGTGAGCGCAGACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACA CAGTGATGAGGTCAGGTGAGCGCACACTTGGACACTATGATGAGGCCAGG TGAGTGCACACTGGGACATTATGATGAGGCCATGTGAGCGCACAGTGGGG CACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTA GGTGAGCGGACACTGGGGCATTATGATGAGGCTAGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGTTGAGCTCCCACTATGACACTATGATGAAGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCT GGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTG GCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGA CTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATG AGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCA CAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGA TGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTG CACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTAT GATGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAG TGCACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGCGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACA CTATGATGAGGCTACGTGAGTGCACACTGGGACACTATGATGAGGCTAGG TGAGTGCACACTGGGACACTATGGTGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCCGCGTGAGTGCACACTGGGGCACTATGACTAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGCACACTGG GACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACCCT GGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTATGATGAG GCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGAGCGGACA CTGGGGCACTATGATGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAG GCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACA CTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGG AGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGA TGAAGCCGTGTGAACGCACACTGGGACAGTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAAGCCGTGTGAACGCACACTGGGACACTAT GATGAGGCCAGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAG CACGCACTGGGACACTATGATGAGGCTAGTTGAATGCACACTGGGACACT ATAATGAGGCTAGTTGAGTGCACACTGGGCCACTATGATGAGGGTAGGTG AGCGCACACTATGATGAGGCCAGGTGAGCGCCCATTGGGACAGTGATGAG GCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTTGATGAGCGCACA CTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACCCTATGATG AGGCTAGATGAGCCCACACTGAGACACTATGACGAGGCTACGTGAGAGCA CACTGGGGCAGTATGATGAGGGTAGGTGAGCGCACACTCGTGCACTATGA TGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTTAGTGCACACTGGTACACTATCATGAGGCCAGGTGAG TGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACACTGGGACACT ATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGAGGCCAGGTG AGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGATACTGGGCCA CTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCCGT TGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGA CAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATGATCAGGCTA GGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGCGCATACTGG GACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACT GGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATGATGAG GCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGTGAGCGCACA CTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGGA TACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATGA TTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCCAGGTGAGTG CACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTAT GATG |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T T |
TCATCATA others(5225): Show TCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCA GTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGG CCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCC CAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGC CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACAC CTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGC TCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCA TACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGC ACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAC CATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTC ATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGT GTGCACTCACCTGGCCTCATGATAGTGTACCAGTGTGCACTAACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGG CCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCATCATACTGCCC CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCATAGTGT GCGCTCACCTACCCTCATCATAGTGGCCCAGTGTGCACTCAACTAGCCTC ATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCATCATAGTGTCCCAGT GCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGCC TCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGTTCACACGG CTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCT GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCAGT GTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTACCC TCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCCAA GTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCCGG CCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGCCC CACTGTGCACTCACCTAGCCTCATCATAGTGCCTCAGTGTGCACTCACAT AGCCTCATCATAGTGCCCCAGTATGAGCTCACCTAGCCTCATCATAGTGC CCCAGTCTGCGCACACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCACATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGT GTCCCAGAGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTC ACCTAGCTTCATCATAGTGTCATAGTGGGAGCTCAACCGGCCTCATCATA GGGTCCCAGTGTGCACTCACCTAGCCTCATCATAATGCCCCAGTGTCCGC TCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCA TAGTGCCCCACTGTGCGCTCACATGGCCTCATCATAATGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCAAGTGTGCGCTCACCTGACCTCAT CACTGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCTCACCAAGCCTC ATCATAGAGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATATTGTCCCAGTGTGCACTCAACTACCC TCATCATAGTGTCCCAGTGTCCGCTCACCAAGCCTCATCATAGTGTCCCA GTGTGCAGTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAG CCTCACCATACTGTCTCAGTGTGCGCTCACCTAGCCTCATCATGGTGTCT CAGTGTGCGCTCACCTAGCCTCACCATGGTGTCCAAGTGTCCGCTCACCG AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTACCCTCATCATAGGGT CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGTGCTCAT CTAGCCTCAACAAAATGTCCCAGTGTGCAATCACCCGGAATTATCATAGT ACCCCAGTGTGCGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGTGCTC ACCTGGCCTCATCATAGTGCCTCAGTGTGCGCTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCTATTATCCGC TCACCTAGCCTCATCAAAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GCTCACCTAGCCTCATGATAGTGTCCCAGTGTGTGCTCGCCCAGCTTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAGTGTG CACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGTGCACTCACCGAGCCT GATCATAGTGTCCCAGGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAG TGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAGT CTCATCATAGTGCCCCAGGGTCCGCTCACCTAGCCTCATCAAAGTGTCCC AGTGGGTGCTCACCTAGCCTCATCATAGTGCCCCAGTCACCGCTCAACTA GCCTCATCATATTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTC CCAGTGTGCACTCACCTGCCTCATCATAGTGTCCCAGTGTGCGTTCACCC TGCCTCATCATAGTGACCCAGTCTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT GTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATA GGGCACCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTACAC TCACCTGGCCTCATTGTACTGTCCCAGTGTGCACTCACACGGCCTCATCA TAGTGTCCCAGTGGGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTAC GCTCACCTAGCCTCATCATAGTGTCGCAGTATACACTCAGCTAGCCTCAT CATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAAGGT GCGCTCATCCGGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCTGTGTGCAATCACCTAGCCTCATCATAGTTTCCCACT GTGTGCTCACCTGGCCTCATCATAGTGCCCCAGTTTGCACTCACCTGGCC TCATCATAGTGTCCCACTGTGAACTCACCTGGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCTTGATCATAGTGTCCCAGTATCCGCTCATTTAG CGTCATCATAGTGCCCCAGAATCCGCTCACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCAGCT AGCCTCATCATAGTGCCCTAGTGTGCGTTCACATAGCCTCATCATAGTAC CCCAGTTTCAGCTCACCGAGCCTCATCATAGTG |
intron_variant intron_variant |
MODIFIER | HG01109.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show c.327+7781_327+7782insCACTATGATGAGGCTCGGTGAGCTGAAA CTGGGGTACTATGATGAGGCTATGTGAACGCACACTAGGGCACTATGATG AGGCTAGCTGAGCACACACTGGGGCACTATGATGAGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGGATTCTGGGGCACTATGA TGACGCTAAATGAGCGGATACTGGGACACTATGATCAAGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCCAGGTGAGTTCACAGTGGGACACTAT GATGAGGCCAGGTGAGTGCAAACTGGGGCACTATGATGAGGCCAGGTGAG CACACAGTGGGAAACTATGATGAGGCTAGGTGATTGCACACAGGGACACT ATGATGAGGCTAGGTGAGTGCACACTGCGACACTATGATGAGGCCGGATG AGCGCACCTTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGCTGAGTGTATACTGCGACACTATGATGAGGCTAGG TGAGCGTACACTGGGACACTATGATGAGGCTAGGTGAGCGCCCACTGGGA CACTATGATGAGGCCGTGTGAGTGCACACTGGGACAGTACAATGAGGCCA GGTGAGTGTACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG TGCCCTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCACACACT GGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAG GCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCAGACTGGGTCACTATGATG AGGCAGGGTGAACGCACACTGGGACACTATGATGAGGCAGGTGAGTGCAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCAATATGAT GAGGCTAGTTGAGCGGTGACTGGGGCACTATGATGAGGCTAGGTGAGCAC CCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACCCTGGGGCACTATG ATGAGACTAGGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACACTGCGACACTATCATGAGGCCAGATGAGCGCACCCTGGGACACTA TGATCAGGCTCGGTGAGTGCACACTGGGACTCTATGATGAGGCTAGCTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGCACACACTGGGACAC TATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGGT GAGTGCACACTGGTCAGTATAATGAGGCCAGGTGAGTGTACACTGGGGCA CTATGATGAAGCTGGGCGAGCACACACTGGGACACTATCATGAGGCTAGG TGAGCGCACAATGGGACACTATGATGAGGTTAGGTGAGCGCACACTGGGG CAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACTTTGATGAGGCTA GGTGAGCGGATAATAGGACACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGAGGCACTATGATGAGGC CAGGTGAGCACACACTGGGACACTATGATGAGGCTAGATGAGCGCACACT GGGGTACTATGATAATTCCGGGTGATTGCACACTGGGACATTTTGTTGAG GCTAGATGAGCACACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACA CTGGGACCCTATGATGAGGGTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTCGGTGAGCGGACACTTGGACACCATGGTGAGGCTAGGTGAGCGCA CACTGAGACACCATGATGAGGCTAGGTGAGCGCACACTGAGACAGTATGG TGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGACTG CACACTGGGACACTATGATGAGGCTTGGTGAGCGGACACTGGGACACTAT GATGAGGGTAGTTGAGTGCACACTGGGACAATATGATGAGGCTAGGTGAG CGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACTCT ATGATGAGGCTTGGTGAGCGCAGACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACA CAGTGATGAGGTCAGGTGAGCGCACACTTGGACACTATGATGAGGCCAGG TGAGTGCACACTGGGACATTATGATGAGGCCATGTGAGCGCACAGTGGGG CACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTA GGTGAGCGGACACTGGGGCATTATGATGAGGCTAGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGTTGAGCTCCCACTATGACACTATGATGAAGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCT GGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTG GCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGA CTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATG AGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCA CAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGA TGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTG CACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTAT GATGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAG TGCACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGCGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACA CTATGATGAGGCTACGTGAGTGCACACTGGGACACTATGATGAGGCTAGG TGAGTGCACACTGGGACACTATGGTGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCCGCGTGAGTGCACACTGGGGCACTATGACTAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGCACACTGG GACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACCCT GGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTATGATGAG GCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGAGCGGACA CTGGGGCACTATGATGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAG GCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACA CTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGG AGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGA TGAAGCCGTGTGAACGCACACTGGGACAGTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAAGCCGTGTGAACGCACACTGGGACACTAT GATGAGGCCAGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAG CACGCACTGGGACACTATGATGAGGCTAGTTGAATGCACACTGGGACACT ATAATGAGGCTAGTTGAGTGCACACTGGGCCACTATGATGAGGGTAGGTG AGCGCACACTATGATGAGGCCAGGTGAGCGCCCATTGGGACAGTGATGAG GCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTTGATGAGCGCACA CTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACCCTATGATG AGGCTAGATGAGCCCACACTGAGACACTATGACGAGGCTACGTGAGAGCA CACTGGGGCAGTATGATGAGGGTAGGTGAGCGCACACTCGTGCACTATGA TGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTTAGTGCACACTGGTACACTATCATGAGGCCAGGTGAG TGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACACTGGGACACT ATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGAGGCCAGGTG AGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGATACTGGGCCA CTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCCGT TGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGA CAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATGATCAGGCTA GGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGCGCATACTGG GACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACT GGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATGATGAG GCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGTGAGCGCACA CTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGGA TACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATGA TTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCCAGGTGAGTG CACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTAT GATG |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T T |
TCATCATA others(5225): Show TCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCA GTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGG CCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCC CAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGC CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACAC CTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGC TCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCA TACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGC ACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAC CATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTC ATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGT GTGCACTCACCTGGCCTCATGATAGTGTACCAGTGTGCACTAACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGG CCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCATCATACTGCCC CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCATAGTGT GCGCTCACCTACCCTCATCATAGTGGCCCAGTGTGCACTCAACTAGCCTC ATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCATCATAGTGTCCCAGT GCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGCC TCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGTTCACACGG CTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCT GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCAGT GTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTACCC TCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCCAA GTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCCGG CCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGCCC CACTGTGCACTCACCTAGCCTCATCATAGTGCCTCAGTGTGCACTCACAT AGCCTCATCATAGTGCCCCAGTATGAGCTCACCTAGCCTCATCATAGTGC CCCAGTCTGCGCACACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCACATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGT GTCCCAGAGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTC ACCTAGCTTCATCATAGTGTCATAGTGGGAGCTCAACCGGCCTCATCATA GGGTCCCAGTGTGCACTCACCTAGCCTCATCATAATGCCCCAGTGTCCGC TCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCA TAGTGCCCCACTGTGCGCTCACATGGCCTCATCATAATGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCAAGTGTGCGCTCACCTGACCTCAT CACTGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCTCACCAAGCCTC ATCATAGAGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATATTGTCCCAGTGTGCACTCAACTACCC TCATCATAGTGTCCCAGTGTCCGCTCACCAAGCCTCATCATAGTGTCCCA GTGTGCAGTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAG CCTCACCATACTGTCTCAGTGTGCGCTCACCTAGCCTCATCATGGTGTCT CAGTGTGCGCTCACCTAGCCTCACCATGGTGTCCAAGTGTCCGCTCACCG AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTACCCTCATCATAGGGT CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGTGCTCAT CTAGCCTCAACAAAATGTCCCAGTGTGCAATCACCCGGAATTATCATAGT ACCCCAGTGTGCGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGTGCTC ACCTGGCCTCATCATAGTGCCTCAGTGTGCGCTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCTATTATCCGC TCACCTAGCCTCATCAAAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GCTCACCTAGCCTCATGATAGTGTCCCAGTGTGTGCTCGCCCAGCTTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAGTGTG CACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGTGCACTCACCGAGCCT GATCATAGTGTCCCAGGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAG TGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAGT CTCATCATAGTGCCCCAGGGTCCGCTCACCTAGCCTCATCAAAGTGTCCC AGTGGGTGCTCACCTAGCCTCATCATAGTGCCCCAGTCACCGCTCAACTA GCCTCATCATATTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTC CCAGTGTGCACTCACCTGCCTCATCATAGTGTCCCAGTGTGCGTTCACCC TGCCTCATCATAGTGACCCAGTCTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT GTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATA GGGCACCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTACAC TCACCTGGCCTCATTGTACTGTCCCAGTGTGCACTCACACGGCCTCATCA TAGTGTCCCAGTGGGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTAC GCTCACCTAGCCTCATCATAGTGTCGCAGTATACACTCAGCTAGCCTCAT CATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAAGGT GCGCTCATCCGGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCTGTGTGCAATCACCTAGCCTCATCATAGTTTCCCACT GTGTGCTCACCTGGCCTCATCATAGTGCCCCAGTTTGCACTCACCTGGCC TCATCATAGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCTTGATCATAGTGTCCCAGTATCCGCTCATTTAG CGTCATCATAGTGCCCCAGAATCCGCTCACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCAGCT AGCCTCATCATAGTGCCCTAGTGTGCGTTCACATAGCCTCATCATAGTAC CCCAGTTTCAGCTCACCGAGCCTCATCATAGTG |
intron_variant intron_variant |
MODIFIER | HG00323.hp2 HG01123.hp2 HG04184.hp1 others(1): Show HG00323.hp2 HG01123.hp2 HG04184.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0148a0001c0001t0001g0149others(1): Show | 4 | 344 | 0.0116 | 5232 | c.327 others(5249): Show c.327+7781_327+7782insCACTATGATGAGGCTCGGTGAGCTGAAA CTGGGGTACTATGATGAGGCTATGTGAACGCACACTAGGGCACTATGATG AGGCTAGCTGAGCACACACTGGGGCACTATGATGAGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGGATTCTGGGGCACTATGA TGACGCTAAATGAGCGGATACTGGGACACTATGATCAAGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACACTAT GATGAGGCCAGGTGAGTGCAAACTGGGGCACTATGATGAGGCCAGGTGAG CACACAGTGGGAAACTATGATGAGGCTAGGTGATTGCACACAGGGACACT ATGATGAGGCTAGGTGAGTGCACACTGCGACACTATGATGAGGCCGGATG AGCGCACCTTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGCTGAGTGTATACTGCGACACTATGATGAGGCTAGG TGAGCGTACACTGGGACACTATGATGAGGCTAGGTGAGCGCCCACTGGGA CACTATGATGAGGCCGTGTGAGTGCACACTGGGACAGTACAATGAGGCCA GGTGAGTGTACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG TGCCCTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCACACACT GGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAG GCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCAGACTGGGTCACTATGATG AGGCAGGGTGAACGCACACTGGGACACTATGATGAGGCAGGTGAGTGCAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCAATATGAT GAGGCTAGTTGAGCGGTGACTGGGGCACTATGATGAGGCTAGGTGAGCAC CCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACCCTGGGGCACTATG ATGAGACTAGGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACACTGCGACACTATCATGAGGCCAGATGAGCGCACCCTGGGACACTA TGATCAGGCTCGGTGAGTGCACACTGGGACTCTATGATGAGGCTAGCTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGCACACACTGGGACAC TATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGGT GAGTGCACACTGGTCAGTATAATGAGGCCAGGTGAGTGTACACTGGGGCA CTATGATGAAGCTGGGCGAGCACACACTGGGACACTATCATGAGGCTAGG TGAGCGCACAATGGGACACTATGATGAGGTTAGGTGAGCGCACACTGGGG CAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACTTTGATGAGGCTA GGTGAGCGGATAATAGGACACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGAGGCACTATGATGAGGC CAGGTGAGCACACACTGGGACACTATGATGAGGCTAGATGAGCGCACACT GGGGTACTATGATAATTCCGGGTGATTGCACACTGGGACATTTTGTTGAG GCTAGATGAGCACACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACA CTGGGACCCTATGATGAGGGTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTCGGTGAGCGGACACTTGGACACCATGGTGAGGCTAGGTGAGCGCA CACTGAGACACCATGATGAGGCTAGGTGAGCGCACACTGAGACAGTATGG TGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGACTG CACACTGGGACACTATGATGAGGCTTGGTGAGCGGACACTGGGACACTAT GATGAGGGTAGTTGAGTGCACACTGGGACAATATGATGAGGCTAGGTGAG CGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACTCT ATGATGAGGCTTGGTGAGCGCAGACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACA CAGTGATGAGGTCAGGTGAGCGCACACTTGGACACTATGATGAGGCCAGG TGAGTGCACACTGGGACATTATGATGAGGCCATGTGAGCGCACAGTGGGG CACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTA GGTGAGCGGACACTGGGGCATTATGATGAGGCTAGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGTTGAGCTCCCACTATGACACTATGATGAAGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCT GGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTG GCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGA CTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATG AGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCA CAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGA TGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTG CACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTAT GATGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAG TGCACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGCGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACA CTATGATGAGGCTACGTGAGTGCACACTGGGACACTATGATGAGGCTAGG TGAGTGCACACTGGGACACTATGGTGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCCGCGTGAGTGCACACTGGGGCACTATGACTAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGCACACTGG GACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACCCT GGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTATGATGAG GCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGAGCGGACA CTGGGGCACTATGATGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAG GCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACA CTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGG AGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGA TGAAGCCGTGTGAACGCACACTGGGACAGTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAAGCCGTGTGAACGCACACTGGGACACTAT GATGAGGCCAGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAG CACGCACTGGGACACTATGATGAGGCTAGTTGAATGCACACTGGGACACT ATAATGAGGCTAGTTGAGTGCACACTGGGCCACTATGATGAGGGTAGGTG AGCGCACACTATGATGAGGCCAGGTGAGCGCCCATTGGGACAGTGATGAG GCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTTGATGAGCGCACA CTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACCCTATGATG AGGCTAGATGAGCCCACACTGAGACACTATGACGAGGCTACGTGAGAGCA CACTGGGGCAGTATGATGAGGGTAGGTGAGCGCACACTCGTGCACTATGA TGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTTAGTGCACACTGGTACACTATCATGAGGCCAGGTGAG TGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACACTGGGACACT ATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGAGGCCAGGTG AGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGATACTGGGCCA CTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCCGT TGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGA CAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATGATCAGGCTA GGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGCGCATACTGG GACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACT GGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATGATGAG GCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGTGAGCGCACA CTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGGA TACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATGA TTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCCAGGTGAGTG CACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTAT GATG |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T T |
TCATCATA others(5225): Show TCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCA GTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGG CCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCC CAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGC CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACAC CTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGC TCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCA TACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGC ACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAC CATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTC ATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGT GTGCACTCACCTGGCCTCATGATAGTGTACCAGTGTGCACTAACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGG CCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCATCATACTGCCC CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCATAGTGT GCGCTCACCTACCCTCATCATAGTGGCCCAGTGTGCACTCAACTAGCCTC ATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCATCATAGTGTCCCAGT GCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGCC TCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGTTCACACGG CTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCT GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCAGT GTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTACCC TCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCCAA GTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCCGG CCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGCCC CACTGTGCACTCACCTAGCCTCATCATAGTGCCTCAGTGTGCACTCACAT AGCCTCATCATAGTGCCCCAGTATGAGCTCACCTAGCCTCATCATAGTGC CCCAGTCTGCGCACACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCACATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGT GTCCCAGAGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTC ACCTAGCTTCATCATAGTGTCATAGTGGGAGCTCAACCGGCCTCATCATA GGGTCCCAGTGTGCACTCACCTAGCCTCATCATAATGCCCCAGTGTCCGC TCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCA TAGTGCCCCACTGTGCGCTCACATGGCCTCATCATAATGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCAAGTGTGCGCTCACCTGACCTCAT CACTGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCTCACCAAGCCTC ATCATAGAGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATATTGTCCCAGTGTGCACTCAACTACCC TCATCATAGTGTCCCAGTGTCCGCTCACCAAGCCTCATCATAGTGTCCCA GTGTGCAGTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAG CCTCACCATACTGTCTCAGTGTGCGCTCACCTAGCCTCATCATGGTGTCT CAGTGTGCGCTCACCTAGCCTCACCATGGTGTCCAAGTGTCCGCTCACCG AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTACCCTCATCATAGGGT CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGTGCTCAT CTAGCCTCAACAAAATGTCCCAGTGTGCAATCACCCGGAATTATCATAGT ACCCCAGTGTGCGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGTGCTC ACCTGGCCTCATCATAGTGCCTCAGTGTGCGCTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCTATTATCCGC TCACCTAGCCTCATCAAAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GCTCACCTAGCCTCATGATAGTGTCCCAGTGTGTGCTCGCCCAGCTTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAGTGTG CACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGTGCACTCACCGAGCCT GATCATAGTGTCCCAGGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAG TGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAGT CTCATCATAGTGCCCCAGGGTCCGCTCACCTAGCCTCATCAAAGTGTCCC AGTGGGTGCTCACCTAGCCTCATCATAGTGCCCCAGTCACCGCTCAACTA GCCTCATCATATTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTC CCAGTGTGCACTCACCTGCCTCATCATAGTGTCCCAGTGTGCGTTCACCC TGCCTCATCATAGTGACCCAGTCTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT GTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATA GGGCACCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTACAC TCACCTGGCCTCATTGTACTGTCCCAGTGTGCACTCACACGGCCTCATCA TAGTGTCCCAGTGGGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTAC GCTCACCTAGCCTCATCATAGTGTCGCAGTATACACTCAGCTAGCCTCAT CATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAAGGT GCGCTCATCCGGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCTGTGTGCAATCACCTAGCCTCATCATAGTTTCCCACT GTGTGCTCACCTGGCCTCATCATAGTGCCCCAGTTTGCACTCACCTGGCC TCATCATAGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCTTGATCATAGTGTCCCAGTATCCGCTCATTTAG CGTCATCATAGTGCCCCAGAATCCGCTCACCTAGCCTCATCATAGTGTCC CCGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCAGCT AGCCTCATCATAGTGCCCTAGTGTGCGTTCACATAGCCTCATCATAGTAC CCCAGTTTCAGCTCACCGAGCCTCATCATAGTG |
intron_variant intron_variant |
MODIFIER | HG02723.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show c.327+7781_327+7782insCACTATGATGAGGCTCGGTGAGCTGAAA CTGGGGTACTATGATGAGGCTATGTGAACGCACACTAGGGCACTATGATG AGGCTAGCTGAGCACACACTGGGGCACTATGATGAGGCCAGGTGAGTGCA CACGGGGACACTATGATGAGGCTAGGTGAGCGGATTCTGGGGCACTATGA TGACGCTAAATGAGCGGATACTGGGACACTATGATCAAGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACACTAT GATGAGGCCAGGTGAGTGCAAACTGGGGCACTATGATGAGGCCAGGTGAG CACACAGTGGGAAACTATGATGAGGCTAGGTGATTGCACACAGGGACACT ATGATGAGGCTAGGTGAGTGCACACTGCGACACTATGATGAGGCCGGATG AGCGCACCTTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGCTGAGTGTATACTGCGACACTATGATGAGGCTAGG TGAGCGTACACTGGGACACTATGATGAGGCTAGGTGAGCGCCCACTGGGA CACTATGATGAGGCCGTGTGAGTGCACACTGGGACAGTACAATGAGGCCA GGTGAGTGTACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG TGCCCTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCACACACT GGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAG GCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCAGACTGGGTCACTATGATG AGGCAGGGTGAACGCACACTGGGACACTATGATGAGGCAGGTGAGTGCAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCAATATGAT GAGGCTAGTTGAGCGGTGACTGGGGCACTATGATGAGGCTAGGTGAGCAC CCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACCCTGGGGCACTATG ATGAGACTAGGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACACTGCGACACTATCATGAGGCCAGATGAGCGCACCCTGGGACACTA TGATCAGGCTCGGTGAGTGCACACTGGGACTCTATGATGAGGCTAGCTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGCACACACTGGGACAC TATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGGT GAGTGCACACTGGTCAGTATAATGAGGCCAGGTGAGTGTACACTGGGGCA CTATGATGAAGCTGGGCGAGCACACACTGGGACACTATCATGAGGCTAGG TGAGCGCACAATGGGACACTATGATGAGGTTAGGTGAGCGCACACTGGGG CAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACTTTGATGAGGCTA GGTGAGCGGATAATAGGACACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGAGGCACTATGATGAGGC CAGGTGAGCACACACTGGGACACTATGATGAGGCTAGATGAGCGCACACT GGGGTACTATGATAATTCCGGGTGATTGCACACTGGGACATTTTGTTGAG GCTAGATGAGCACACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACA CTGGGACCCTATGATGAGGGTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTCGGTGAGCGGACACTTGGACACCATGGTGAGGCTAGGTGAGCGCA CACTGAGACACCATGATGAGGCTAGGTGAGCGCACACTGAGACAGTATGG TGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGACTG CACACTGGGACACTATGATGAGGCTTGGTGAGCGGACACTGGGACACTAT GATGAGGGTAGTTGAGTGCACACTGGGACAATATGATGAGGCTAGGTGAG CGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACTCT ATGATGAGGCTTGGTGAGCGCAGACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACA CAGTGATGAGGTCAGGTGAGCGCACACTTGGACACTATGATGAGGCCAGG TGAGTGCACACTGGGACATTATGATGAGGCCATGTGAGCGCACAGTGGGG CACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTA GGTGAGCGGACACTGGGGCATTATGATGAGGCTAGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGTTGAGCTCCCACTATGACACTATGATGAAGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCT GGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTG GCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGA CTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATG AGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCA CAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGA TGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTG CACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTAT GATGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAG TGCACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGCGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACA CTATGATGAGGCTACGTGAGTGCACACTGGGACACTATGATGAGGCTAGG TGAGTGCACACTGGGACACTATGGTGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCCGCGTGAGTGCACACTGGGGCACTATGACTAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGCACACTGG GACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACCCT GGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTATGATGAG GCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGAGCGGACA CTGGGGCACTATGATGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAG GCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACA CTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGG AGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGA TGAAGCCGTGTGAACGCACACTGGGACAGTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAAGCCGTGTGAACGCACACTGGGACACTAT GATGAGGCCAGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAG CACGCACTGGGACACTATGATGAGGCTAGTTGAATGCACACTGGGACACT ATAATGAGGCTAGTTGAGTGCACACTGGGCCACTATGATGAGGGTAGGTG AGCGCACACTATGATGAGGCCAGGTGAGCGCCCATTGGGACAGTGATGAG GCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTTGATGAGCGCACA CTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACCCTATGATG AGGCTAGATGAGCCCACACTGAGACACTATGACGAGGCTACGTGAGAGCA CACTGGGGCAGTATGATGAGGGTAGGTGAGCGCACACTCGTGCACTATGA TGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTTAGTGCACACTGGTACACTATCATGAGGCCAGGTGAG TGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACACTGGGACACT ATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGAGGCCAGGTG AGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGATACTGGGCCA CTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCCGT TGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGA CAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATGATCAGGCTA GGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGCGCATACTGG GACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACT GGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATGATGAG GCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGTGAGCGCACA CTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGGA TACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATGA TTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCCAGGTGAGTG CACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTAT GATG |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T T |
TCATCATA others(5225): Show TCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCACCTGG CCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCC CAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGC CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACAC CTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGC TCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCA TACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGC ACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAC CATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGTCCCAGTGT GCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTC ATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGT GTGCACTCACCTGGCCTCATGATAGTGTACCAGTGTGCACTAACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGG CCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCATCATACTGCCC CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCATAGTGT GCGCTCACCTACCCTCATCATAGTGGCCCAGTGTGCACTCAACTAGCCTC ATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCATCATAGTGTCCCAGT GCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGCC TCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGTTCACACGG CTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCT GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCAGT GTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTACCC TCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCCAA GTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCCGG CCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGCCC CACTGTGCACTCACCTAGCCTCATCATAGTGCCTCAGTGTGCACTCACAT AGCCTCATCATAGTGCCCCAGTATGAGCTCACCTAGCCTCATCATAGTGC CCCAGTCTGCGCACACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCACATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGT GTCCCAGAGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTC ACCTAGCTTCATCATAGTGTCATAGTGGGAGCTCAACCGGCCTCATCATA GGGTCCCAGTGTGCACTCACCTAGCCTCATCATAATGCCCCAGTGTCCGC TCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCA TAGTGCCCCACTGTGCGCTCACATGGCCTCATCATAATGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGTGTCCAAGTGTGCGCTCACCTGACCTCAT CACTGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCTCACCAAGCCTC ATCATAGAGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATATTGTCCCAGTGTGCACTCAACTACCC TCATCATAGTGTCCCAGTGTCCGCTCACCAAGCCTCATCATAGTGTCCCA GTGTGCAGTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAG CCTCACCATACTGTCTCAGTGTGCGCTCACCTAGCCTCATCATGGTGTCT CAGTGTGCGCTCACCTAGCCTCACCATGGTGTCCAAGTGTCCGCTCACCG AGCCTCATCACAGTGTCCCAGTGTGCACTCACCTACCCTCATCATAGGGT CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGTGCTCAT CTAGCCTCAACAAAATGTCCCAGTGTGCAATCACCCGGAATTATCATAGT ACCCCAGTGTGCGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGTGCTC ACCTGGCCTCATCATAGTGCCTCAGTGTGCGCTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCTATTATCCGC TCACCTAGCCTCATCAAAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GCTCACCTAGCCTCATGATAGTGTCCCAGTGTGTGCTCGCCCAGCTTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAGTGTG CACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGTGCACTCACCGAGCCT GATCATAGTGTCCCAGGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAG TGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAGT CTCATCATAGTGCCCCAGGGTCCGCTCACCTAGCCTCATCAAAGTGTCCC AGTGGGTGCTCACCTAGCCTCATCATAGTGCCCCAGTCACCGCTCAACTA GCCTCATCATATTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTC CCAGTGTGCACTCACCTGCCTCATCATAGTGTCCCAGTGTGCGTTCACCC TGCCTCATCATAGTGACCCAGTCTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT GTCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATA GGGCACCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTACAC TCACCTGGCCTCATTGTACTGTCCCAGTGTGCACTCACACGGCCTCATCA TAGTGTCCCAGTGGGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTAC GCTCACCTAGCCTCATCATAGTGTCGCAGTATACACTCAGCTAGCCTCAT CATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAAGGT GCGCTCATCCGGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCTGTGTGCAATCACCTAGCCTCATCATAGTTTCCCACT GTGTGCTCACCTGGCCTCATCATAGTGCCCCAGTTTGCACTCACCTGGCC TCATCATAGTGTCCCAGTGTGAACTCACCTGGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCTTGATCATAGTGTCCCAGTATCCGCTCATTTAG CGTCATCATAGTGCCCCAGAATCCGCTCACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCTCAGCT AGCCTCATCATAGTGCCCTAGTGTGCGTTCACATAGCCTCATCATAGTAC CCCAGTTTCAGCTCACCGAGCCTCATCATAGTG |
intron_variant intron_variant |
MODIFIER | HG00735.hp2 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show c.327+7781_327+7782insCACTATGATGAGGCTCGGTGAGCTGAAA CTGGGGTACTATGATGAGGCTATGTGAACGCACACTAGGGCACTATGATG AGGCTAGCTGAGCACACACTGGGGCACTATGATGAGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGGATTCTGGGGCACTATGA TGACGCTAAATGAGCGGATACTGGGACACTATGATCAAGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACACTAT GATGAGGCCAGGTGAGTGCAAACTGGGGCACTATGATGAGGCCAGGTGAG CACACAGTGGGAAACTATGATGAGGCTAGGTGATTGCACACAGGGACACT ATGATGAGGCTAGGTGAGTGCACACTGCGACACTATGATGAGGCCGGATG AGCGCACCTTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGCTGAGTGTATACTGCGACACTATGATGAGGCTAGG TGAGCGTACACTGGGACACTATGATGAGGCTAGGTGAGCGCCCACTGGGA CACTATGATGAGGCCGTGTGAGTGCACACTGGGACAGTACAATGAGGCCA GGTGAGTGTACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG TGCCCTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCACACACT GGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAG GCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCAGACTGGGTCACTATGATG AGGCAGGGTGAACGCACACTGGGACACTATGATGAGGCAGGTGAGTGCAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCAATATGAT GAGGCTAGTTGAGCGGTGACTGGGGCACTATGATGAGGCTAGGTGAGCAC CCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACCCTGGGGCACTATG ATGAGACTAGGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACACTGCGACACTATCATGAGGCCAGATGAGCGCACCCTGGGACACTA TGATCAGGCTCGGTGAGTGCACACTGGGACTCTATGATGAGGCTAGCTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGCACACACTGGGACAC TATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGGT GAGTGCACACTGGTCAGTATAATGAGGCCAGGTGAGTGTACACTGGGGCA CTATGATGAAGCTGGGCGAGCACACACTGGGACACTATCATGAGGCTAGG TGAGCGCACAATGGGACACTATGATGAGGTTAGGTGAGCGCACACTGGGG CAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACTTTGATGAGGCTA GGTGAGCGGATAATAGGACACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGAGGCACTATGATGAGGC CAGGTGAGCACACACTGGGACACTATGATGAGGCTAGATGAGCGCACACT GGGGTACTATGATAATTCCGGGTGATTGCACACTGGGACATTTTGTTGAG GCTAGATGAGCACACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACA CTGGGACCCTATGATGAGGGTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTCGGTGAGCGGACACTTGGACACCATGGTGAGGCTAGGTGAGCGCA CACTGAGACACCATGATGAGGCTAGGTGAGCGCACACTGAGACAGTATGG TGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGACTG CACACTGGGACACTATGATGAGGCTTGGTGAGCGGACACTGGGACACTAT GATGAGGGTAGTTGAGTGCACACTGGGACAATATGATGAGGCTAGGTGAG CGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACTCT ATGATGAGGCTTGGTGAGCGCAGACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGGCCAGGTGAGTTCACACTGGGACA CAGTGATGAGGTCAGGTGAGCGCACACTTGGACACTATGATGAGGCCAGG TGAGTGCACACTGGGACATTATGATGAGGCCATGTGAGCGCACAGTGGGG CACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTA GGTGAGCGGACACTGGGGCATTATGATGAGGCTAGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGTTGAGCTCCCACTATGACACTATGATGAAGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCT GGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTG GCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGA CTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATG AGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCA CAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGA TGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTG CACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTAT GATGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAG TGCACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGCGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACA CTATGATGAGGCTACGTGAGTGCACACTGGGACACTATGATGAGGCTAGG TGAGTGCACACTGGGACACTATGGTGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCCGCGTGAGTGCACACTGGGGCACTATGACTAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGCACACTGG GACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACCCT GGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTATGATGAG GCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGAGCGGACA CTGGGGCACTATGATGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAG GCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACA CTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGG AGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCA CACTGGGACACTATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGA TGAAGCCGTGTGAACGCACACTGGGACAGTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAAGCCGTGTGAACGCACACTGGGACACTAT GATGAGGCCAGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAG CACGCACTGGGACACTATGATGAGGCTAGTTGAATGCACACTGGGACACT ATAATGAGGCTAGTTGAGTGCACACTGGGCCACTATGATGAGGGTAGGTG AGCGCACACTATGATGAGGCCAGGTGAGCGCCCATTGGGACAGTGATGAG GCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTTGATGAGCGCACA CTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACCCTATGATG AGGCTAGATGAGCCCACACTGAGACACTATGACGAGGCTACGTGAGAGCA CACTGGGGCAGTATGATGAGGGTAGGTGAGCGCACACTCGTGCACTATGA TGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTTAGTGCACACTGGTACACTATCATGAGGCCAGGTGAG TGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACACTGGGACACT ATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGAGGCCAGGTG AGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGATACTGGGCCA CTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCCGT TGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGA CAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATGATCAGGCTA GGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGCGCATACTGG GACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACT GGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATGATGAG GCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGTGAGCGCACA CTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTGTGATG AGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGGA TACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATGA TTAGGCCAGGTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTAT GATG |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCACCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATGAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGTTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA19030.hp2 NA19030.hp2 |
a0004 | a0004c0034 | a0004c0034t0025 | a0004c0034t0025g0194 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTCATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGTGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCAGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCGTCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG03098.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGACGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACTGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC ACTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02970.hp1 HG02970.hp1 |
a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGTGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG03942.hp1 NA19060.hp2 HG03942.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0096a0002c0002t0003g0152 | 2 | 224 | 0.0089 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAAATTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01978.hp1 HG01993.hp2 HG02293.hp1 others(6): Show HG01978.hp1 HG01993.hp2 HG02293.hp1 NA18947.hp1 NA18957.hp1 NA18979.hp1 NA18988.hp1 NA19007.hp1 NA19009.hp2 |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0005others(4): Show | a0001c0001t0001g0029a0001c0001t0004g0066a0001c0003t0005g0077others(6): Show | 9 | 224 | 0.0402 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAT TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGA GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG00323.hp1 HG00323.hp1 |
a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0115 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG00140.hp2 HG00621.hp1 HG01069.hp1 others(35): Show HG00140.hp2 HG00621.hp1 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02683.hp2 HG03239.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG06807.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19066.hp1 NA19080.hp2 NA20129.hp1 |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0027others(35): Show 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 |
38 | 224 | 0.1696 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG03486.hp1 HG03486.hp1 |
a0009 | a0009c0045 | a0009c0045t0008 | a0009c0045t0008g0085 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTCAAGAGCTTCTGCACA GAAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02055.hp2 HG02071.hp1 HG02165.hp1 others(6): Show HG02055.hp2 HG02071.hp1 HG02165.hp1 HG02970.hp2 HG03195.hp2 NA18949.hp1 NA18955.hp1 NA18982.hp2 NA18999.hp2 |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0072a0001c0001t0001g0082others(6): Show | 9 | 224 | 0.0402 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTTCTGTGCAGAAGCTCTTGAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATATGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18983.hp1 NA18983.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0074 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCATATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATATGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTCAAGAGCTTCTGCACA GAAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGACGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG00408.hp1 HG00408.hp1 |
a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0012 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACGTCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTTCTGTGCAGAAGCTCTTGAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCATATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATTCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01081.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGAATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCTGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTCAAGAGCTTCTGCACA GAAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTAGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18979.hp2 NA18979.hp2 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0121 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCTACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTTCTGTGCAGAAGCTCTTGAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACTGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTCAAGAGCTTCTGCACA GAAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18943.hp2 NA18970.hp1 NA19066.hp2 NA18943.hp2 NA18970.hp1 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0073a0001c0001t0001g0138a0002c0002t0002g0019 | 3 | 224 | 0.0134 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTTCTGTGCAGAAGCTCTTGAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCAGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATGAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGTTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACACAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02257.hp1 HG02257.hp1 |
a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0113 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGTGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTCATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGCTAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACCACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG06807.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTGGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATAGCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACAAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACATGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGATGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA21309.hp1 NA21309.hp1 |
a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0217 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCATCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCATGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTTGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACAAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGATGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02055.hp1 HG02896.hp2 HG02897.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0003a0001c0001t0015a0001c0018t0008 | a0001c0001t0003g0198a0001c0001t0015g0044a0001c0001t0015g0046others(1): Show | 4 | 224 | 0.0179 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCATCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTTGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTTTTAATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA CAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACTGCGCTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGCATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATGCGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGCGCAGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTGTAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATTAAAAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5226): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTTTTAATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACTGCGCTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATC CTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGG CAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACA TTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACA GAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCC TTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGCATTTCAAAATAATAAGAGCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACATG ATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTG ATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAATC ACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGG GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATC CAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACT GCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCT CATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTA ATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAC AGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCC GCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACA CTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATG GTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCT CAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAG AAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGA AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGCA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01081.hp2 HG01192.hp1 HG01516.hp1 others(8): Show HG01081.hp2 HG01192.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02738.hp2 HG03704.hp1 HG03942.hp2 NA19000.hp2 NA19003.hp1 NA21309.hp2 |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(7): Show | a0001c0001t0001g0179a0001c0001t0005g0181a0001c0003t0003g0088others(8): Show | 11 | 224 | 0.0491 | 5233 | c.188 others(5252): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATGCGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGCGCAGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATTAAAAAAAAAAAGAAAAAAAAAAAAAGAAG ACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG CACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01109.hp1 HG01109.hp1 |
a0005 | a0005c0006 | a0005c0006t0016 | a0005c0006t0016g0158 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG CACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTCAAGAGCTTCTGCAC AGAAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02615.hp2 HG02615.hp2 |
a0002 | a0002c0037 | a0002c0037t0004 | a0002c0037t0004g0043 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTTCTGTGCAGAAGCTCTTGAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG CACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18956.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG03579.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAG TTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCT AGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTT TCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGA ATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTCA AAGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATT CAGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGAT TCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTT GTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAAC TATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTAT ATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCT TGGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCT CGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTA ATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATG AATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTC CTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTC TTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCA ACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCC TTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAA TACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGT CTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTAT GTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATT AGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGA TTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTT CAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTT GCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTG GCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAA TATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCG CTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTG GCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAAT TATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCT GTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTC TCCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCAC ATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGT CCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTA AACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATAC CCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCAC GTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTC TCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTT TTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAAT TTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATC CAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGA GGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCA TCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGAT GGGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATA CACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTG TAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAA GAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TATTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTCACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACTCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18942.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTGAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAATAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTCACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAC AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA20129.hp2 NA20129.hp2 |
a0004 | a0004c0049 | a0004c0049t0014 | a0004c0049t0014g0190 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTGAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTCACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG00438.hp2 HG02080.hp2 HG02293.hp2 others(2): Show HG00438.hp2 HG02080.hp2 HG02293.hp2 HG02523.hp1 HG03471.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0034a0001c0001t0003g0063a0001c0001t0021g0178others(2): Show | 5 | 224 | 0.0223 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTGAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTCACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAGTTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01361.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAACTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTGAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTCACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACTCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18995.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTGAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAAATTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG00323.hp2 HG00438.hp1 HG01516.hp2 others(9): Show HG00323.hp2 HG00438.hp1 HG01516.hp2 HG01891.hp1 HG02486.hp2 HG02523.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03654.hp2 NA18988.hp2 |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0004g0133others(9): Show | 12 | 224 | 0.0536 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAATTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAAATTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCTGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02080.hp1 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCAGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAATTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG01361.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAAGTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATTAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(4): Show HG02145.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG03098.hp2 NA19043.hp1 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0001c0027others(4): Show | a0001c0001t0009a0001c0011t0003a0001c0027t0004others(4): Show | a0001c0001t0009g0161a0001c0011t0003g0107a0001c0027t0004g0026others(4): Show | 7 | 224 | 0.0313 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTAATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATACTTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA19043.hp2 NA19043.hp2 |
a0014 | a0014c0060 | a0014c0060t0005 | a0014c0060t0005g0220 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18522.hp1 NA18522.hp1 |
a0011 | a0011c0015 | a0011c0015t0003 | a0011c0015t0003g0041 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAATAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0010 | a0001c0001t0009g0199a0003c0005t0010g0193 | 2 | 224 | 0.0089 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTATTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5227): Show GGAAAAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTGCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACA CCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAA ACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAAC GCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAG AACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTC AGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAA AGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAA CCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCT CGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACT GGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAG AAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAA GAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACC TGAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATA TTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATT CAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCC AAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGT TAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATC AGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTG GGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCAGAATTT CATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTT ATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAA AGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGC CGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAAC TGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATC AAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTG CAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAACGGAAAACAAAAAA AGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAAT TCAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAG GACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGAC TCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAG CTCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAT TGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAA CCTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAA AGATCTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTC TGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGC CTACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAAT TAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGG CAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAA AACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCA ACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAG AATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCC CACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAA ATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACT CTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAG AGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTC CAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAA CTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAAT CCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGG GCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAAC ATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCA CATCAAAAAGCTTATCCACCATGAGCAAGTGGGCTTCATCCCTGGGATGC AAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAAC AGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGC CTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAG GTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACAT GATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAAT CACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATG GGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAAT CCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCAC TGCTCAATGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGC TCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGT AATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCA CAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCC CGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCAC ACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCAT GGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCC TCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGA GAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGG AAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA CCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACC TAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACA TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTGC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | HG02922.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 224 | 0.0045 | 5234 | c.188 others(5253): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGCTCATGGTGGATAAGC TTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAA TGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCAT CTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATT TCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAG TCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCATTTCTTCTAGATTTT CTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTTGT ATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTC TATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTAT CAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTT TGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGT TATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA GTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCTTT CTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAA TGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA AGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCATTC AGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATT CTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTG TTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACT ATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATA TTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTT GGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTC GTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAA TGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGA ATCTGGGTCCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCC TCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCT TTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAA CCCCTGCCTTTTTTTGTTTTCCGTTGGCTTGGTAGATCTTCCTCCATCCT TTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAAT ACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTC TTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATG TGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTA GTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGAT TTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTC AGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTG CTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGG CTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAGGAATGTTGAAT ATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGC TGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGG CTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATT ATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTG TATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCT CCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCACA TCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTC CCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAA ACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATCGCTGATACC CTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACG TAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCT CTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTT TCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATT TGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCC AGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAG GCACTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCAT CTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATG GGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGCAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAAGAA GACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G G |
GGAAAAGT others(5228): Show GGAAAAGTCTTCTTTTTTTTTTTTTCTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTAGGACATCTACAC CGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAA CCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACG CAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGA ACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCA GACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAA GAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAAC CAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTC GAGAACTACGTGAAGATTGCAGAAGCCTCAGGAGCCGATGCGATCAACTG GAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGA AGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAG AAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCT GAAAGTGATGTGGAGAATGGAACCAAGTTGGAGAACACTCTGCAGGATAT TATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTC AGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCA AGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTT AAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCA GACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGG GGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTC ATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTA TAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAA GAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCC GCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACT GCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCA AATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGC AATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAG TGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTC AAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAA GGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAA AGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATT CAACAAGAGGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGC ACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACT CCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGAC AGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGC TCTGCGCCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAAT CAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATT GACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGA AATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCA GGATTAAGAATCTCACTCAAAGCCGCTCAACTCCATGGAAACTGAACAAC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATCTTCTTTGAAACCAACGAGAATAAAGACACCACATACCAGAATCTCT GGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC TACAAGAGAAAGCAGGAAGGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAA ACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCC ACAGAAATACAAATTACCATCAGAGAATACTACAAACACCTCTACGCAAA TAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTC TCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAAGA GGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCC AGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAAC TGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGGAAT CCTCCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCG GGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAA CATTGATGCAAAAATCCTCAATAAAATCTATACATAGTGATGTTAGCAGC ACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATG CAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAA CAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAG CCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTA GGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACC CACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGA AAACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATA GTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGG TATTCAATTAGGAAAAGAGGAAGTCAAATTGTGTCTGTTTGCAGACGACA TGATTGTTTATCTAGAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGC TGATAAGCAACTTCAGCTAAGTCTCAGGATACAAAATCAATGTACAAAAA TCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCAT GGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAA TCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCA CTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATG CTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGG TAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTC ACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGC CCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCA CACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCA TGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCC CTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTG AGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGG GAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTAC ACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGAC CTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGAC ATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAAC AAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCA CAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAG AAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTG CAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAA AGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCA GCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAAT GCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAA TCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATA GGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTG GAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTG ACCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGC TGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAAT AGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT |
intron_variant intron_variant |
MODIFIER | NA18940.hp1 NA18940.hp1 |
a0030 | a0030c0032 | a0030c0032t0002 | a0030c0032t0002g0168 | 1 | 224 | 0.0045 | 5235 | c.188 others(5254): Show c.1889-2317_1889-2316insATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGG ATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGCAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTT TGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTA GCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGC TTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCAT TATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGT ACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAG TCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTT GGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTT CCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT CTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCC TACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTT CCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTT GTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGG GAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGA ATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTAGCTGAAG TTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTCTAGA TAAACAATCATGTCGTCTGCAAACAGACACAATTTGACTTCCTCTTTTCC TAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAA CTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTT GTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGAT ATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCC CATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATT TTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTC TTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGA ACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGC TTTTTGATGTGCTGCTAACATCACTATGTATAGATTTTATTGAGGATTTT TGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTG TGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAG TTAGGGGAGGATTCCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGG AATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCC ATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAA TTTCAGAGCCTCTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTT AGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATT TTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAATTT GTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTG TCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCT ATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTT TTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTA GTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTC TAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCCTTCCTGCT TTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTG AATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTATTCTCGTTGGTTTC AAAGAAGATCTTTATTTCTGCCTTCATTTTGTTATGTACCCAGTAGTCAT TCAGGAGCAGGTTGTTCAGTTTCCATGGAGTTGAGCGGCTTTGAGTGAGA TTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTT TGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAA CTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTA TATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGC TTGGCGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTC TCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATT AATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTAT GAATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGATAGTTAGCT CCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCT CTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGC AACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATC CTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGA ATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTG TCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTA TGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCAT TAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATG ATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCT TCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATT TGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTT GGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGA ATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCC GCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCT GGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAA TTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTC TGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTT CTCCTGGATAATATCCTGCAGAGTGTTCTCCAACTTGGTTCCATTCTCCA CATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAG TCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCT AAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATA CCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCAATCTTCA CGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTT CTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGT TTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAA TTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCAT CCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAG AGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCC ATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGA TGGGTTTTCGGTGTAGATGTCCTACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAT GCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAATAAATAAATAAATAAAAAAAAGAAAAAAAAAAAAAGA AGACTTTTC |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23973057 | G G |
GTTCCCAG others(5228): Show GTTCCCAGGAGCAGGCAGGAGGCAGTGGCCTTCCTCTATCTCAACTGCAA GAGGCCTTCCTTTTTTACTAACCCACCGCAGCACAGACCCTTTATGGGTG TCGGGCTGGGGGACAGTCAGGTCTTTCTCATCCCAGGAGGCCATATTTCA GACTATCACATGGGAGAAACCTTGGACAATACCCTGCTTTCAAGGGCAGA GGTCCCTGCGGCTTTCTGCAGTGCACTGTGCCCCTGGTTTATTGAGACTA GAGAATGGCGATGACTTTTACCAAGTATACTGCTTGTAAACATTTTGTTA ACAAGGCACGTCCTACACAGTCCTAGATCCCTTAAACCTTGATTTCATAC AACACATGTTCTTGTGAGCTCCAGGTTGGGTCAAAGTGGTTGGGTCAAAG TGGCTGGGGCAAAGCTAAAAATTAACAACATCTCAGAAAAGCAATTATTT AAAGTACAGGTCTTTTTCAAAATGTAGTCTCTTATGTCTTCCCTTTCTAC ATAGACACGGTAACAGTCTGATCTCTCTTTCTTTTCCCTACATATCCCCC TTTTCTTTTTGACAAAACTGTCATTGTCACCATGGCCTGTTTTTGCTGGT CACTGTCTTTCTGGAACTGCTGGATACACCTGTAGACTAACAATAGAGAG GGCAGACATACAAGGATTAATACAAAATTTGCAATAGTGGATTTTCCAAT GGTTTTAACCCAAGTGATGGGGGCAAGAGGACAGTGTGGGTGCTCCGGCA CCCAGGCAGTCTCCCTTCTCCTTTGTCTCTTAGTTGTTGTTTCTCATAGT TTTCAATCTTTCTCCTCACCTGCTCACTCGCACTTTTTGTTTCATTGTCT CCCTTCTCTTATGGTCTCTCTCTCTTTTTCTCTTTTTCTTCCTTTTACAC TATTTCTTTTCCCAGTCTCACTTTCTGTGTCTCTCTCTGATCTCTGTCTT TCTCTTTTACATTATTTTTTTCCCCAGTCTCACCTTCTGTGTCTTTCTCT GATCTCTGTCTTTTCCAGTCTCTCTCTTACTCATTTTCTCCCTCTCTTTC TCTCTCTCTCTCTCTCTCTCTGTCTGTCATCCCGTGTCCTCTCTCCTTCA CACTCAGTCTCTTTTTCTTTTTCTTTTTCTCCCTGGCTCTCCACATCTGC CGTTTTCTCTCCTTTCTCTTTCTGATTTCTCTTCTCACTTTCTCTCTTCC TTTCTTTCCCAGTTTCTCTTTTTTCTCTGTTGGTCTTTCCCAAATAATGA AAAGGAGTGGAGGTCTGAATGTTATCAGATGCTATTGTCAGGCCTGCGTT TGCAACCTCTGTCTGCAGAAATGTGTAACAGTCAATTAATTTGTCTCTCG TTTCTGCAGCACACAAAATATCATCAACATAATGAATAATATAACAGTCT GAAAACTTGTCTCTAACTGGTTGAAGAACTTGAGCTACAAAAGTCTGACA AATAGTTGGACTATTAAGCATTCCCTGAGGCAACACTTTCCGCTGAAATC TGGTGGCTGGTTTTTTATTATTTATGGCTGGTATAGTAAAAGCAAATTTT TTTAAATCCTATTTTGCCAGAGGAATGGTAAAAACGCAATCCTTTAGCTC AATTATAATTAAAGGCCAATCTTTGGGGATCATGGCCGGAGAAAGCAGCC CAAGTTGGAGAGTCCCCATGGGTTGAATTACTGCATTGATGGCTCTCAAA TCAGTTAGGATGCACCATCTGCCTGATTTTTTCTGAATTACAAACGCAGG AGAATGCCAAGGTGAAAATGAAGGCTCAATGTTTCCCTTTTCTAATTGTT CCTTTGCCACTAAGTGTAAGGCCTCCAGTTTTTGCTTTGGTAGTGGCCAC TGATTTACCCATACAGGCTTTTCTGTTTTCCCAGTTAATGGAATGGGTTT TGGAGGCTCTACAGTGGCCACTCCTAAAAAGGATACCCTATTTCTTTTTT TTTTTTTTTTTTGGATTTTTTTAGCCTCAATTGGGACTTTAATGCCTTCT CCATTTTTCCCTAGTCCTTTACCAGAGAGATATCCCATTTTAGTCATGAT TTTTTGACTCGTGGCGCTGTATAGGGAGACTGGAATAGTAATCTCTGCAT GCCACTGTTCTAACAAGTCTCGGCCCCATAAGTTAATTGGAATAGAAATA ATCATAGGCTGAACTGTACTCTCTTGATTATTAGGGCCTAGACAATGTAA AATCATGGCACTTTGATACACTTCTGAGGCGGTGCCCACACCAACAAATC CTGTAACAGGCTTTTGTTTAGGACAATTTTTTGGCCATTGATTTAAGACA ATAATAGAAACATCAGCCCCAGTAGCCACTAATCCTTCAAACTGCTTTCC CTGAATAGTGACTGTACACACAGGTCTATTCTCTGAGAGCTGACTAGCCC AATAAACAACTTTTCCAGCAGGGTTGGTACTTCCAAACCCTCCTGTTCTT TCTGTTTTGCTATTCCCAATTTTAATATAAGGCAAAAGCAATAATTGAGC AATTCTATCACCTGGATTGGCACTCCAGGGAACAGCAGAGCTGATCACTA ACTGAATTTCCCCTTTATAATCTGAATCAATTACCCCAGTATGAATTTGG ACTCCTTTTAAATTTAGACTTGATCTTCCTAAAATAAGGCCTACCATCCC TTCTGGCAGCAGGCCATACACCCCAGTAGGAATCTTTTGAGGGAGCACTC CAGGGAGTGAAGAAACCATTTGAGTAGAACATAAATCTACTGCTGCGCTG CCTGCTGTGGTGGGGGATAACTGTTGTATTGTTGTAATTGGCTGATTCCC TGGAATGGTGGTATTTACTGTGGGGGTTGTTGTCCCTGAAAACCCTGAGG AACAAATGGCTGAATCAAGAATGCCCCACTTTGTTGCGGGGCCTGGGGCT GGTCCCTCTTCTCGTTTCCTGACAATGGTTGCCCATTTTTATCAAATTTA GAACAACATTCCTTAGCCCAGTGTTTTCCTCTTTCACATTTTGGACACAG GCCAGGTGGCTGTTTATTTTTGTTCTGTTTATTTAAGACTGGGCAATTCT TTTTTAGATGACCGATTTGACCACAATTATAACATTTTCCCCCAAATGTT TTAACTTGTCCTCCTAAAGCAACCCCCGTAATTGCTTGAGCCAGTAGCAT TGCCTTATGCATAGTTCCTCCAATCCCATCACAAGCCTTCACATATTCTG TAATTACATCAACTCCTGCTGAAACCTTTCCTCTTAATGGCTTTATGGCC AATTGACATCCTGGATTTGCATTTTGATAACCCATTATTTCTACAACAAC TTTTTGGGCGTTATCATCTGCAATCGATTTTTGAGCTGCATCTTGCAACC TTGCCACAAAGTCTGGATATGGCTCTTTAGAGCCTTGTCTGATTGAACTA AAAGAAGGGCAGGAGGTTCCTGGGTCCTGAATCTTTTCCCAGACCCTGAG GCAAATAGCCCTTATTGTTCAATAGCCTCATTCTGCATTACTGATTGTTG GTTAATAGTGCTCCAATTTGGACCTGTTTCTGGCAATTGGTCTGCATCTA TATTAACAACAGGATTAGTAGCCTGATTTTTCCATACCTGTTCTTGTACT CCGTCAATCCACCAGGTTTTAAATTGTAGATACTGAGAGGGTGAAAGAGA AGATTTAGCCAAAATTTCCCAATCATAAGGAATAAGTCTATTCCCATTAG CAATGGAATCTAATAATGTTCTCATATAAGGAGAGTTGGGTCCATATTGT TTAACTGCCTCCTTCATATCTTTTAACATTTTCATGGTGAAAGATTCATA TCTAGCCTCAGTTTGGACAGACGCTCCTGCTTGACTCCGTTTTCCAGCCG GTATTGGTTGTAAAATTACCAGGAACTGCCCTGCCTCAAGATCTCCCTGT TTTCTGGCTTTATCAATGATTTTTGCAGTGCACTATCTTGTCCACTAGGT GGTAGTGTAGGATCAAACACCATCGCCATGGGTTGTTGCTATACTGCCCT GCTATTTGGCACAGGACACAACACCTGGGATCTATACTGAACCACTGGAG ACGGGCCGATACTGAAATTCGGCTGATGGCTGGTGTTCATAAACTACTGA TGGTTGGGTTTTATTTTCTACCGGCTGATATTGTGGATACTGTGTCTGGA TTGGCATTTGAGGTTGTAATGTCACAGGCATCTGAACCGTGGGAGAAGGA GTTGTTGGCCATCGTGGTCTAAACTCTGATGGACCAAATAATTCTGGACC TCCTTCCTCCAATTTTGATGACTTAGGATATATTACCTCCTGTAATTGAT TATAGTCAACATTTTGTGTTGACCGAACCATTGCAGACTCTACTACATTT TTACAATGTGAACTTTCTGTTCCATTCTTGAACTGTCTTCCTACCTCTTC TTCACAAACTATTACACAGCTTTCAGGGGCATCAGAAACTGAAATGCTAT CTTCTTCTATTTGAAATAGTTCTCAAGTTGCTTTAATAATAGCCCAATCA TTCCATGCTGTAAGTGGGATGATTTTACCTTCCCTACTTGCTTGTTTTAA TTCTTTGCTAATTTTTCCCCAGTCTTTTAAATCTAAAGTTCCCTGTTCTG GAAACCATGGGCAGAATTGTTCTATTGTTTGAAATAGCATAATTAGATTC TCTGTAGAAGCTTAAACTCCCCGTCTTAAGAGAATTTTAATGAAGCTGAG ATAAGAGGCATATTTACTTCCAGTTTGCCCCATTGTTACCCTGGATTCCT CCAAGTGCACAAGCTTACCGCAAGGCTGACCGTGGATGTACTCGGGAATC TCTTGTTGGCTGTCCTCAATACTCACTTAGCGTACTTTCACCCTAGAGAA AGGCCCCATGTTGGATGCCAGATGAAGGGGTGGCCTGCCCCTCCACACCT GTGGGTATTTCTAGTCAGGTGGGATGAGAGACTGAGAAAGAGAAATAAGA CACAGAGACAAAGTATAGAGAAACAACAGTGGGCCGAGGGGACCGGCGCT CAGCATACCAAGGACCTGCACCAGCACCGGTCTCTGAGTTCCCTCAGTTT TTATTGATTATTATTGTCATTATTTCAGTAAAAAGGAATGTAGTAGGAGG GCAGGGTGATTATAAGGAGAAGGTCAGCAACAATCATGTGAGGAATAAAC ATGTCTCGCCTCCACCATAGGGCGGTTTTTCTCTCATCTCAGAACTGAAC AAATGTACAATCGGGATTTATACTGAGACATTTAGT |
downstream_gene_variant downstream_gene_variant |
MODIFIER | HG01993.hp1 HG01993.hp1 |
a0002 | a0002c0005 | a0002c0005t0009 | a0002c0005t0009g0003 | 1 | 267 | 0.0038 | 5235 | c.*41 others(5246): Show c.*4186_*4187insTTCCCAGGAGCAGGCAGGAGGCAGTGGCCTTCCT CTATCTCAACTGCAAGAGGCCTTCCTTTTTTACTAACCCACCGCAGCACA GACCCTTTATGGGTGTCGGGCTGGGGGACAGTCAGGTCTTTCTCATCCCA GGAGGCCATATTTCAGACTATCACATGGGAGAAACCTTGGACAATACCCT GCTTTCAAGGGCAGAGGTCCCTGCGGCTTTCTGCAGTGCACTGTGCCCCT GGTTTATTGAGACTAGAGAATGGCGATGACTTTTACCAAGTATACTGCTT GTAAACATTTTGTTAACAAGGCACGTCCTACACAGTCCTAGATCCCTTAA ACCTTGATTTCATACAACACATGTTCTTGTGAGCTCCAGGTTGGGTCAAA GTGGTTGGGTCAAAGTGGCTGGGGCAAAGCTAAAAATTAACAACATCTCA GAAAAGCAATTATTTAAAGTACAGGTCTTTTTCAAAATGTAGTCTCTTAT GTCTTCCCTTTCTACATAGACACGGTAACAGTCTGATCTCTCTTTCTTTT CCCTACATATCCCCCTTTTCTTTTTGACAAAACTGTCATTGTCACCATGG CCTGTTTTTGCTGGTCACTGTCTTTCTGGAACTGCTGGATACACCTGTAG ACTAACAATAGAGAGGGCAGACATACAAGGATTAATACAAAATTTGCAAT AGTGGATTTTCCAATGGTTTTAACCCAAGTGATGGGGGCAAGAGGACAGT GTGGGTGCTCCGGCACCCAGGCAGTCTCCCTTCTCCTTTGTCTCTTAGTT GTTGTTTCTCATAGTTTTCAATCTTTCTCCTCACCTGCTCACTCGCACTT TTTGTTTCATTGTCTCCCTTCTCTTATGGTCTCTCTCTCTTTTTCTCTTT TTCTTCCTTTTACACTATTTCTTTTCCCAGTCTCACTTTCTGTGTCTCTC TCTGATCTCTGTCTTTCTCTTTTACATTATTTTTTTCCCCAGTCTCACCT TCTGTGTCTTTCTCTGATCTCTGTCTTTTCCAGTCTCTCTCTTACTCATT TTCTCCCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCATCCCGT GTCCTCTCTCCTTCACACTCAGTCTCTTTTTCTTTTTCTTTTTCTCCCTG GCTCTCCACATCTGCCGTTTTCTCTCCTTTCTCTTTCTGATTTCTCTTCT CACTTTCTCTCTTCCTTTCTTTCCCAGTTTCTCTTTTTTCTCTGTTGGTC TTTCCCAAATAATGAAAAGGAGTGGAGGTCTGAATGTTATCAGATGCTAT TGTCAGGCCTGCGTTTGCAACCTCTGTCTGCAGAAATGTGTAACAGTCAA TTAATTTGTCTCTCGTTTCTGCAGCACACAAAATATCATCAACATAATGA ATAATATAACAGTCTGAAAACTTGTCTCTAACTGGTTGAAGAACTTGAGC TACAAAAGTCTGACAAATAGTTGGACTATTAAGCATTCCCTGAGGCAACA CTTTCCGCTGAAATCTGGTGGCTGGTTTTTTATTATTTATGGCTGGTATA GTAAAAGCAAATTTTTTTAAATCCTATTTTGCCAGAGGAATGGTAAAAAC GCAATCCTTTAGCTCAATTATAATTAAAGGCCAATCTTTGGGGATCATGG CCGGAGAAAGCAGCCCAAGTTGGAGAGTCCCCATGGGTTGAATTACTGCA TTGATGGCTCTCAAATCAGTTAGGATGCACCATCTGCCTGATTTTTTCTG AATTACAAACGCAGGAGAATGCCAAGGTGAAAATGAAGGCTCAATGTTTC CCTTTTCTAATTGTTCCTTTGCCACTAAGTGTAAGGCCTCCAGTTTTTGC TTTGGTAGTGGCCACTGATTTACCCATACAGGCTTTTCTGTTTTCCCAGT TAATGGAATGGGTTTTGGAGGCTCTACAGTGGCCACTCCTAAAAAGGATA CCCTATTTCTTTTTTTTTTTTTTTTTTGGATTTTTTTAGCCTCAATTGGG ACTTTAATGCCTTCTCCATTTTTCCCTAGTCCTTTACCAGAGAGATATCC CATTTTAGTCATGATTTTTTGACTCGTGGCGCTGTATAGGGAGACTGGAA TAGTAATCTCTGCATGCCACTGTTCTAACAAGTCTCGGCCCCATAAGTTA ATTGGAATAGAAATAATCATAGGCTGAACTGTACTCTCTTGATTATTAGG GCCTAGACAATGTAAAATCATGGCACTTTGATACACTTCTGAGGCGGTGC CCACACCAACAAATCCTGTAACAGGCTTTTGTTTAGGACAATTTTTTGGC CATTGATTTAAGACAATAATAGAAACATCAGCCCCAGTAGCCACTAATCC TTCAAACTGCTTTCCCTGAATAGTGACTGTACACACAGGTCTATTCTCTG AGAGCTGACTAGCCCAATAAACAACTTTTCCAGCAGGGTTGGTACTTCCA AACCCTCCTGTTCTTTCTGTTTTGCTATTCCCAATTTTAATATAAGGCAA AAGCAATAATTGAGCAATTCTATCACCTGGATTGGCACTCCAGGGAACAG CAGAGCTGATCACTAACTGAATTTCCCCTTTATAATCTGAATCAATTACC CCAGTATGAATTTGGACTCCTTTTAAATTTAGACTTGATCTTCCTAAAAT AAGGCCTACCATCCCTTCTGGCAGCAGGCCATACACCCCAGTAGGAATCT TTTGAGGGAGCACTCCAGGGAGTGAAGAAACCATTTGAGTAGAACATAAA TCTACTGCTGCGCTGCCTGCTGTGGTGGGGGATAACTGTTGTATTGTTGT AATTGGCTGATTCCCTGGAATGGTGGTATTTACTGTGGGGGTTGTTGTCC CTGAAAACCCTGAGGAACAAATGGCTGAATCAAGAATGCCCCACTTTGTT GCGGGGCCTGGGGCTGGTCCCTCTTCTCGTTTCCTGACAATGGTTGCCCA TTTTTATCAAATTTAGAACAACATTCCTTAGCCCAGTGTTTTCCTCTTTC ACATTTTGGACACAGGCCAGGTGGCTGTTTATTTTTGTTCTGTTTATTTA AGACTGGGCAATTCTTTTTTAGATGACCGATTTGACCACAATTATAACAT TTTCCCCCAAATGTTTTAACTTGTCCTCCTAAAGCAACCCCCGTAATTGC TTGAGCCAGTAGCATTGCCTTATGCATAGTTCCTCCAATCCCATCACAAG CCTTCACATATTCTGTAATTACATCAACTCCTGCTGAAACCTTTCCTCTT AATGGCTTTATGGCCAATTGACATCCTGGATTTGCATTTTGATAACCCAT TATTTCTACAACAACTTTTTGGGCGTTATCATCTGCAATCGATTTTTGAG CTGCATCTTGCAACCTTGCCACAAAGTCTGGATATGGCTCTTTAGAGCCT TGTCTGATTGAACTAAAAGAAGGGCAGGAGGTTCCTGGGTCCTGAATCTT TTCCCAGACCCTGAGGCAAATAGCCCTTATTGTTCAATAGCCTCATTCTG CATTACTGATTGTTGGTTAATAGTGCTCCAATTTGGACCTGTTTCTGGCA ATTGGTCTGCATCTATATTAACAACAGGATTAGTAGCCTGATTTTTCCAT ACCTGTTCTTGTACTCCGTCAATCCACCAGGTTTTAAATTGTAGATACTG AGAGGGTGAAAGAGAAGATTTAGCCAAAATTTCCCAATCATAAGGAATAA GTCTATTCCCATTAGCAATGGAATCTAATAATGTTCTCATATAAGGAGAG TTGGGTCCATATTGTTTAACTGCCTCCTTCATATCTTTTAACATTTTCAT GGTGAAAGATTCATATCTAGCCTCAGTTTGGACAGACGCTCCTGCTTGAC TCCGTTTTCCAGCCGGTATTGGTTGTAAAATTACCAGGAACTGCCCTGCC TCAAGATCTCCCTGTTTTCTGGCTTTATCAATGATTTTTGCAGTGCACTA TCTTGTCCACTAGGTGGTAGTGTAGGATCAAACACCATCGCCATGGGTTG TTGCTATACTGCCCTGCTATTTGGCACAGGACACAACACCTGGGATCTAT ACTGAACCACTGGAGACGGGCCGATACTGAAATTCGGCTGATGGCTGGTG TTCATAAACTACTGATGGTTGGGTTTTATTTTCTACCGGCTGATATTGTG GATACTGTGTCTGGATTGGCATTTGAGGTTGTAATGTCACAGGCATCTGA ACCGTGGGAGAAGGAGTTGTTGGCCATCGTGGTCTAAACTCTGATGGACC AAATAATTCTGGACCTCCTTCCTCCAATTTTGATGACTTAGGATATATTA CCTCCTGTAATTGATTATAGTCAACATTTTGTGTTGACCGAACCATTGCA GACTCTACTACATTTTTACAATGTGAACTTTCTGTTCCATTCTTGAACTG TCTTCCTACCTCTTCTTCACAAACTATTACACAGCTTTCAGGGGCATCAG AAACTGAAATGCTATCTTCTTCTATTTGAAATAGTTCTCAAGTTGCTTTA ATAATAGCCCAATCATTCCATGCTGTAAGTGGGATGATTTTACCTTCCCT ACTTGCTTGTTTTAATTCTTTGCTAATTTTTCCCCAGTCTTTTAAATCTA AAGTTCCCTGTTCTGGAAACCATGGGCAGAATTGTTCTATTGTTTGAAAT AGCATAATTAGATTCTCTGTAGAAGCTTAAACTCCCCGTCTTAAGAGAAT TTTAATGAAGCTGAGATAAGAGGCATATTTACTTCCAGTTTGCCCCATTG TTACCCTGGATTCCTCCAAGTGCACAAGCTTACCGCAAGGCTGACCGTGG ATGTACTCGGGAATCTCTTGTTGGCTGTCCTCAATACTCACTTAGCGTAC TTTCACCCTAGAGAAAGGCCCCATGTTGGATGCCAGATGAAGGGGTGGCC TGCCCCTCCACACCTGTGGGTATTTCTAGTCAGGTGGGATGAGAGACTGA GAAAGAGAAATAAGACACAGAGACAAAGTATAGAGAAACAACAGTGGGCC GAGGGGACCGGCGCTCAGCATACCAAGGACCTGCACCAGCACCGGTCTCT GAGTTCCCTCAGTTTTTATTGATTATTATTGTCATTATTTCAGTAAAAAG GAATGTAGTAGGAGGGCAGGGTGATTATAAGGAGAAGGTCAGCAACAATC ATGTGAGGAATAAACATGTCTCGCCTCCACCATAGGGCGGTTTTTCTCTC ATCTCAGAACTGAACAAATGTACAATCGGGATTTATACTGAGACATTTAG T |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3779 | chr14 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C C |
CACACCCA others(5229): Show CACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACATC TACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCG CGCTTACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACA CTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACC TCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCGCGCT TACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCG CGCTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCA CGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTA CATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACACT TACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTA CCTCCACACTCGCACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCC CGCACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACG CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACT TACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCT TACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCA CACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACT TACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACT TACATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTACCTCCA CACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCACACTCACACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTCACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTCACA CCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACGCTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACACCCACGCTCACACCCACCCACACTTACACCCACGCTTA CATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCA CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCACACTT |
intron_variant intron_variant |
MODIFIER | NA18990.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0059 | 1 | 290 | 0.0035 | 5236 | c.129 others(5253): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCC ACACTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACATCTAC CTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCGC TTACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGC TTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGC TTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCT CCACACTCGCACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCGC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTAC ACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTAC ATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACGCTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACGCTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTT ACACCCAC |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251202 | A A |
ACACATCC others(5232): Show ACACATCCCTCACACCCCCCCACACCCCCACACACCCCCCACACCACACA TCCCTCACACCCCCCCAACACCCCCACACCCCCACACACCCCCCCACACC ACACATCCCTCACACCCCCCACACCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCAACA CCCCCACACCCCCACACACCCCCCCACACCACACATCCCCCACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCCACACCCCCACACAC CACACATCCCTCACACCCCCCCAACACCCCCACACCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCACAC CCCCCACACCACACATCCCTCACACCCCCCCCACCCCCCCAACACCCCCA CACCCCCACACACCCCCCCACACCACACATCCCTCACACCCCCCACACCC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCAA CACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC CCACACCCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCATAC CCCCCCACACCCCCACACCCCCCACACCACACATCCCCCACACCCCCCAC ACCCCCCCCACACCCCCCCACATCACACATCCCCCACACCCCCCACACCC CCCCCACACCCCCACACACCACACATCCCCCACACCCCCCACACCCCCAC ACACCCCCCACACCACACACCCCCACACCCCCCACACCCCCCAACACCCC CACACCCCCCACACACCCCCCCCACCCACACACCCCCACACCCCCCCACA CCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCACACCCCCCCCACACCCCCACACACCACACATCCCCACACCC CCCACACCCCCCACACCACACACCCTCACACCCCCCACACCCCCCACACC ACACACCCCCCACACCCCCCACACACCCCCCACACCACACACCCCCACAC CCCCCACACCCCCACACACCACACATCCCTCACACCCCCCCCCAACACCC CCACACCCCCACACACCCCCCCACACCACACATCCCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCACA CATCCCTCACACCCCCCACACCCCCCACACCACACATCCCCACACCCCCC ACACCCCCCCAACACCCCCACACCCCCACACACCCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCCACACCACACATCCCCACACCCCCCCAC ACCCCCACACACCCCCCACACCCCACACATCCCCCACACCCCCCACACCC CCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCCACACCCCCCACACCACACATCCCCACACCCACCCCCCACATCCC CCAACCCCCACCCCCACACCCCCACACACCCCCCACACCCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACCCCCCAACACCCCCCACACCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCC CCCACACCACACATCCCTCACACCCCCCCACACCCCCCAACACCCCCACA CCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCA CACACCCCCCACACCCACACATCCCCCACACCCCCCACACCCCCCACACC ACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCCCACACCCACACATCC CTCACACCCCCCACATCCCCCATACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACC CCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCACAC CCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCA ACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCACACCCCC CACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACC CCCCAACACCCCACACCCCCACACACCCCCCACACCACACATCCCCCACA CCCCCCACACCCCCCCACACCCCCACACACCACACATCCCTCACACCCCC CACACCCCCCACACCACACATCCCTCACACCCCCCACAACCCCCCCACAC CACACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACA CCCCCCACACCCCCCACACCACACCACACATCCCTCACACCCCCCAACAC CCCCACACCCCCACACACCCCCCCACACCACACATCCCCCACACCCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACC ACACATCCCTCACACCCCCCACACACCCCCCACACCACACATCCTCACAC CCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCCACACCCCCCACACCACACATCCCTCACACCCC CCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCA CACATCCCCACACCCCCCACAACCCCCCCACACCCCACACACCACACATC CCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACA CCCCCCACACCACACATCCCCCACACCCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCC CAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACA CACACCACATCCTCACACCCCCCACACCCCCCACACCACACATCCCTCAC ACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACACCCCCCACACCCCCCACACACACATCCCTCACACCCC CCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCCAACACCCCCACACTCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCCCACACCCCCCCACATCACACATCCCCCACACC CCCCACACCCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCA CACCCCCACACACCCCACACACCACACATCCCCCACACCCCCACACCCCC CAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACC CCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCAC ACACCCCCCAAACACCCCCACACCCCCACACACCCCCACACACCACACAT CCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCAC ACACCCCCACACCCCCCCACACCCCCCACACCCCCCCACACCCCCACACA CCACACATCCCTCACACCCCCCCACACCCCCACACACCCCCCACACACAC ACATCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCAC ACCCCCACACACCCCCCACACCACACATCCCCCACACACCCCCACACCCC CAACACCCCCACACCCCCACACACCCCCACACCACACATCCCTCACACCC CCACACACCCCCCACACCCCCACACCCCACACACCCCCCACAACCACACA TCCCCCACACCCCCCACACCCCCCACACCCCCACACACCACACATCCCTC ACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACACC CCCCACACCACACATCCCCACACCCCCCACACCCCCCAACACCCCCACAC CCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCC ACACCCCCCACACACACATCCCTCACACCCCCCACACCCCCACACACCCC CCACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCCACACC CCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAA CACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATC CCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCC ACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTC ACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCA CACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCATACCCCC CACACCCCCATACCCCTCACATCCCCCACACCCCCATCTC |
intron_variant intron_variant |
MODIFIER | HG02922.hp2 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0015 | 1 | 116 | 0.0086 | 5239 | c.207 others(5258): Show c.2073+1519_2073+1520insACATCCCTCACACCCCCCCACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCCCAACACCCCCACA CCCCCACACACCCCCCCACACCACACATCCCTCACACCCCCCACACCCCC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCAC ACATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCCCCCACA CCACACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCCAACACC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCAC ACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCC CCCCACCCCCCCAACACCCCCACACCCCCACACACCCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCAC ACCACACATCCCTCACACCCCCCCACACCCCCCCACACCACACATCCCTC ACACCCCCCACATCCCCCATACCCCCCCACACCCCCACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCCCCACACCCCCCCACATCACAC ATCCCCCACACCCCCCACACCCCCCCCACACCCCCACACACCACACATCC CCCACACCCCCCACACCCCCACACACCCCCCACACCACACACCCCCACAC CCCCCACACCCCCCAACACCCCCACACCCCCCACACACCCCCCCCACCCA CACACCCCCACACCCCCCCACACCCCCAACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACACCCCCCCCACACCCCCA CACACCACACATCCCCACACCCCCCACACCCCCCACACCACACACCCTCA CACCCCCCACACCCCCCACACCACACACCCCCCACACCCCCCACACACCC CCCACACCACACACCCCCACACCCCCCACACCCCCACACACCACACATCC CTCACACCCCCCCCCAACACCCCCACACCCCCACACACCCCCCCACACCA CACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACCCCCACACACCACACATCCCTCACACCCCCCACACCCCCCAC ACCACACATCCCCACACCCCCCACACCCCCCCAACACCCCCACACCCCCA CACACCCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACC ACACATCCCCACACCCCCCCACACCCCCACACACCCCCCACACCCCACAC ATCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCC CCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCC CCACACCCACCCCCCACATCCCCCAACCCCCACCCCCACACCCCCACACA CCCCCCACACCCACACATCCCCCACACCCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCCCACACC CCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAAC ACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCC CACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCACACACCCCCCACACCCACACATCCCCCA CACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCAACAC CCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAC ACCCCCCCACACCCACACATCCCTCACACCCCCCACATCCCCCATACCCC CCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCACACACCCCCCACACCACACATCCCCACACCCCCCACACCCCCCAA CACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCAACACCCCACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCA CACCACACATCCCCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCAACACCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCCCCCACACCCCCCCACACCCCCACAC ACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCAC ACCCCCCACAACCCCCCCACACCACACATCCCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCACACCACA CATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCCCCCACAC CACACATCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCACACACCC CCCACACCACACATCCTCACACCCCCCACACCCCCCAACACCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCCACACCCCCCA CACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCACACCCCCCAACACCCCCACA CCCCCACACACCCCCCACACCACACATCCCCACACCCCCCACAACCCCCC CACACCCCACACACCACACATCCCTCACACCCCCCACACCCCCCACACCA CACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCCCACACCC CCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACAC ACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACACCACATCCTCACACCCCCCACACC CCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCACA CCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCC ACACACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCCAACACCCCCACACTCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCCACACCCCCC CACATCACACATCCCCCACACCCCCCACACCCCCCCACACCCCCACACAC CACACATCCCTCACACCCCCCACACCCCCACACACCCCACACACCACACA TCCCCCACACCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACACCCCCCAAACACCCCCACACCCCCA CACACCCCCACACACCACACATCCCTCACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCCACACACCCCCACACCCCCCCACACCCCCCA CACCCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCCACACC CCCACACACCCCCCACACACACACATCCCCCACACCCCCCACACCCCCCA ACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCC CCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACACCCCCACACCCCCAACACCCCCACACCCCCACACACCCCC ACACCACACATCCCTCACACCCCCACACACCCCCCACACCCCCACACCCC ACACACCCCCCACAACCACACATCCCCCACACCCCCCACACCCCCCACAC CCCCACACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACA TCCCTCACACCCCCCACACACCCCCCACACCACACATCCCCACACCCCCC ACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCCACACCCCCCACACACACATCCCTCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCC TCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCA CACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACC CCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACA CCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACAC CACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCCCACAC CCCCCACATCCCCCATACCCCCCACACCCCCATACCCCTCACATCCCCCA CACCCCCATCTCC |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364513 | A A |
ACACCCAC others(5233): Show ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACAC TTACACCTACCCTTACATCTACCTCCACACCCGCGCTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCC ACACTCGCACTTACACCCACGCTTACATCTACCTCCACACCCACACTTAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGCTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCC ACACTTACATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACACTTACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGCTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGCTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCGCACTTACATCCACCCACACTTACATCT ACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACAATTACACCCACACTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACACCCGCACTTACATCCACCCACACTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCGCACTTACATCCACCCACACTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCGCACTTACATCCACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCCACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCGCACTTACATCCACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCCAC CCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACAATTACACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACC |
intron_variant intron_variant |
MODIFIER | NA19060.hp1 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0238 | 1 | 290 | 0.0035 | 5240 | c.129 others(5257): Show c.1290-908_1290-907insCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACGCCCACACTTACACCTACCCTTACATCTACCTCCACACCC GCGCTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCC ACACTTACATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCACACTTACACCCACACTTACATCTACCTCCACACTCGCACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACGCTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCT CCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACACTTACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCGCACTTACATCCACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC ACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACACTTACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACAT CCACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC AATTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCCAC CCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACAT CCACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCGCACTTACATCCACCCACACTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCGCACTTACATCCACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCCACCCAC ACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCGCACTTACATCCACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCACAATTACACCCAC ACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACAATTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCAC |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RTEL1_chr20_63653312_63701245 | 63693570 | T T |
TCCACCTC others(5233): Show TCCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCT CCACCACCACCTCCACCTCCACCACCACCACCACCCTCCACCACCACCAC CTCCACCACCTCCTCCACACCCACCACCTCCACCGCCACCTCCACCACCT CCACCACCACCACCACCACCACTCCTCCACCACCACCACCTCCACCTCCA CCACCACCACCACCACCACCACCACCACCTCCACCACCTCCACCTCCACC TCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCTCCTCCAC CACCACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCA CCTCCACCTCCACCACCACCACCACCTCCTCCACCACCACCCCTCCACCT CCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACC ACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCACCTCCACCAC CACCTCCACCACCACCACCTCCACCACCACCACCTCCTCCTCCACCACCA CCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCAC CACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCACCACCACCACCTCCTCCTCCACCACCACCACCTCC ACCTCCACCTCCACCACCTCCACCACCACCACCACCGCCACCTCCACCAC CTCCACCACCACCTCCACCTCCACCACCTCCACCCTCCTCCACCTCCACC TCCACCTCCACCACCTCCACCTCCTCCACCTCCACCTCCACCTCCACCAC CTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCT CCACCACCACCACCACCACCACCTCCACCACCTCCACCACCACCACCTCC ACCTCACCACCTCCACCCACCACCTCCACCTCCACTCCACCTCCACCCTC CACCACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCT CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCACC CACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCACCACCACCACCACCTCCACCTC CACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCA CCACCACCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACC TCCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCAC CTCCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCACCT CCACCTCCACCACCACCACCACCTCCACCACCACCTCACCACCTCCACCA CCTCCACCACCACCACCACCACCTCACCACCTCCACCACCACCACCACCC ACCACCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCAC CACACCTCCACCACCTCCACCACCACCACCACCACCACCACCACCTCCAC CCACCACCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCACC ACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCACCTC CTCCACCTCCACCACTCCACCACCACCACCACCACCTCCACCTCCACCTC CACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCTCCACCTCCA CCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCACCACC ACCTCCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACGTCCAC CACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCA CCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACC TCCACCTCCACCTCCACCCTCCACCCTCCACCTCCACCACCTCCACCACC ACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCACCTCCACCACCACTCCACCTCCACCTCCACCTCCACCACCAC CACCACCCCACCACCCCACCACCCACCACCCACCTCCACCTCCACCACCA CCCCTCCACCACCTCCACCACCACCCCACCTCCACCACCACCACCACCTC ACCACCACCACCTCCACCACCTCCCACCACCACCACCTCCACCACCTCCA CCCACCACCTCCACCTCACCACCCCTCCACCTCCACCCCTCCACCACCAC CACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCACCACCT CCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACC ACCTCCACCACCTCCACCTCCACCACCACCTCCACACCACCACCACCTCC CCACCCACCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCAC CACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCA CCTCCACCTCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCT CCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCCACCACCACC ACCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCAC CACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCTCCACCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACC TCCACCACCACCACCTCCACCTCCACCACCACCTCCACCCTCCACACACC ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCCC ACCACCACCACCTCCACCTCCACCACCACCTCCACCTTCACCACCACCAC CACCTCCACCACCACCTCCACCACCACACCCCCACCACCACCACCACCAC CACCACCTCCACCTCCACCACCACCACCACCTCCCCCACCACCTCCACCA CCACCTCCACCCTCCACCACCACCACCACCTCCCCACCTCCACCACCACC TCCCCACCACCACCCCCACCTCCACCACCACCACCTCCACCTCCACCACC ACCTCCACCTCCACCACCACCACCACCTCCACCACCTCCACCACCACCAC CTCCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACCT CCACCACCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACC TCCACCTCCACCACCACCACCACCACCTCCACCACCACCTCCACCACCAC CACCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCT CCACCACCTCCACCACCACCTCCACCTCCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCTCCACCTTCACCACCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCA CCTCCACCACCACCACCACCACCACCTCCACCTTCACCACCACCTCCACC ACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTC CACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCACCTCCA CCTTCACCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCACCACCACCACCACCTCCACCTCCACCTCCACCACCACCTCCAC CACCACCACCACCACCACCACCTCCACCTCCACCACCACCACCACCACCT CCACCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCTCCACC ACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCTC CACCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCTTCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCTCCACC TCCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTC CACCACCACCACCACCACCACCTCCACCTTCACCACCACCTCCACCACCA CCTCCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCTCCACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCTCCAC CACCACCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCA CCACCTCCACCTTCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCAC CACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCA CCACCACCACCACCACCTCCACCACCACCACCACCTCCACCTTCACCACC ACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCTTCACCAC CACCACCACCTCCACCACCTCCACCTCCACCACCTCCACCACCTCCACCA CCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCTCCACCACCACCACCACCACCACCACCACCTCCACCAC CACCACCACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCT CCACCACCACCACCACCACCACCTCCACCTTCACCACCACCACCACCTCC ACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCTCCACCAC CACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCTCCACCA CCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCACCTCC ACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTC CACCACCACCACCACCTCCACCACCACCTCCACCACCTCCA |
intron_variant intron_variant |
MODIFIER | HG03516.hp2 HG03516.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0051 | 1 | 60 | 0.0167 | 5240 | c.299 others(5257): Show c.2992+298_2992+299insTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACC TCCACCACCTCCACCACCACCTCCACCTCCACCACCACCACCACCCTCCA CCACCACCACCTCCACCACCTCCTCCACACCCACCACCTCCACCGCCACC TCCACCACCTCCACCACCACCACCACCACCACTCCTCCACCACCACCACC TCCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACCACCTC CACCTCCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCA CCTCCTCCACCACCACCACCTCCACCTCCACCTCCACCACCACCTCCACC ACCACCACCACCTCCACCTCCACCACCACCACCACCTCCTCCACCACCAC CCCTCCACCTCCACCTCCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCA CCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCTCC TCCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCA CCACCTCCACCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCTCCTCCACCAC CACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCGCCA CCTCCACCACCTCCACCACCACCTCCACCTCCACCACCTCCACCCTCCTC CACCTCCACCTCCACCTCCACCACCTCCACCTCCTCCACCTCCACCTCCA CCTCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACC TCCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTCCACCAC CACCACCTCCACCTCACCACCTCCACCCACCACCTCCACCTCCACTCCAC CTCCACCCTCCACCACCTCCACCACCTCCACCTCCACCTCCACCACCTCC ACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CACCACCACCCACCACCTCCACCTCCACCACCTCCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCTCCACCTCCACCTCCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCACCACCA CCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCACCACCACCACCACCTCCACCTCCACCACCACCACCACCACCTC CACCACCACCTCCACCACCTCCACCACCTCCACCACCACCACCTCCACCT CCACCTCCACCTCCACCACCTCCACCACCTCCACCTCCACCTCCACCTCC ACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCTCACC ACCTCCACCACCTCCACCACCACCACCACCACCTCACCACCTCCACCACC ACCACCACCCACCACCACCTCCACCTCCACCACCACCTCCACCACCTCCA CCACCACCACCACACCTCCACCACCTCCACCACCACCACCACCACCACCA CCACCTCCACCCACCACCACCTCCACCTCCACCACCACCTCCACCTCCAC CACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCA CCACCACCTCCTCCACCTCCACCACTCCACCACCACCACCACCACCTCCA CCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACC TCCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTC CACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCTCCA CCACGTCCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACC ACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCTC CACCACCACCTCCACCTCCACCTCCACCCTCCACCCTCCACCTCCACCAC CTCCACCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCT CCACCTCCACCTCCACCACCTCCACCACCACTCCACCTCCACCTCCACCT CCACCACCACCACCACCCCACCACCCCACCACCCACCACCCACCTCCACC TCCACCACCACCCCTCCACCACCTCCACCACCACCCCACCTCCACCACCA CCACCACCTCACCACCACCACCTCCACCACCTCCCACCACCACCACCTCC ACCACCTCCACCCACCACCTCCACCTCACCACCCCTCCACCTCCACCCCT CCACCACCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCTC CACCACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACACCAC CACCACCTCCCCACCCACCACCTCCACCTCCACCACCACCTCCACCTCCA CCACCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACC ACCACCACCACCTCCACCTCACCACCACCTCCACCTCCACCACCACCACC ACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTC CACCACCACCACCACCACCACCTCCACCACCTCCACCACCACCTCCACCA CCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCC ACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCC TCCACACACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCA CCACCACCCCACCACCACCACCTCCACCTCCACCACCACCTCCACCTTCA CCACCACCACCACCTCCACCACCACCTCCACCACCACACCCCCACCACCA CCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCCCCACC ACCTCCACCACCACCTCCACCCTCCACCACCACCACCACCTCCCCACCTC CACCACCACCTCCCCACCACCACCCCCACCTCCACCACCACCACCTCCAC CTCCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCTCCA CCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCACC ACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCAC CACCACCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCT CCACCACCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACCTCC ACCACCACCTCCACCACCTCCACCACCACCTCCACCTCCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCTCCACCTTCACCACCACCACCT CCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCTTCACCAC CACCTCCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACC ACCACCTCCACCTTCACCACCACCACCACCTCCACCACCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCTCCACCA CCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCACC ACCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCACCTC CACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCA CCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACC TCCACCTTCACCACCACCACCTCCACCACCACCACCACCTCCACCACCTC CACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCA CCACCACCTCCACCACCACCACCACCACCACCTCCACCTTCACCACCACC TCCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCTCCA CCACCTCCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCACC ACCTCCACCACCACCTCCACCTTCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCT CCACCACCACCACCACCACCACCTCCACCACCACCACCACCACCACCTCC ACCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCAC CTTCACCACCACCACCACCACCTCCACCACCACCACCACCACCACCTCCA CCTTCACCACCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACC ACCTCCACCACCACCACCACCTCCACCACCTCCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCTCCACCACCACCACCACCACCACCACCA CCTCCACCACCACCACCACCACCACCACCACCTCCACCTTCACCACCACC ACCACCACCTCCACCACCACCACCACCACCACCTCCACCTTCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACCA CCTCCACCACCACCACCACCACCACCTCCACCTTCACCACCACCACCACC ACCTCCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCC ACCACCTCCACC |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1064992 | G G |
GCATGTTC others(5234): Show GCATGTTCCTCTAGCACTGCTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGTTGTTACATGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGA GGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACGCTGTTGTTACGTGAACTGAGGGCTATGCATGTT CCTCTAGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGA CACTGTTGGTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAA CTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATACA TGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTCCT CTAGATACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACG CTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAGGGCT ATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATGCATG TTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCT AGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACT GCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTA TGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACATGAACTGAGGGCT ATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATACATG TTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCT AGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACT GTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTA CGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAAC TGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTATGTGAACTGAGGGC TATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTGCTCTAG ACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGC TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATG TGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTG AGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGT TCCTCTAGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAG ACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGA ACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGG GCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATAC ATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCC TCTAGACACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGAC ACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTG TTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGC TATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCAT GTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACAC TGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAA CTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAGGGC TATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCTCTAGACACTGT TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACG TGAACTGAGGGCTATACATGTTCCTCTAGACACTGTTGTTACGTGAACTG AGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGT TCCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG TTATGTGAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTG TTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCAT GTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGACAC TGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTT ACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAA CTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCA TGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTGCTCTA GACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTG CTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGCTGTTATGTGAACTGAGGGCT ATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATG TTCCTCTAGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCA GACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGCGGGCTATA CATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGA CGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAA CTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCA TGTTCCTCCAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACA CTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTG AGGGCTATGCATGTTCCTCCACACGCTGTTGTTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGAC ACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGT TACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTATGTGAACTGAGG GCTATGTATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTGTA |
intron_variant intron_variant |
MODIFIER | NA20905.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0166 | 1 | 337 | 0.0030 | 5241 | c.118 others(5260): Show c.1182+2084_1182+2085insTACAGCCCTCAGTTCACGTAACAACA GTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATACATAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATA GCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTGTGGAG GAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGC ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACA TAACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAAC AGCGTCTGGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCT AGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAA CATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCAT AGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTA ACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAATAGCAG TGTCTAGAGGAACATGTATAGCCCGCAGTTCACGTAACAACAGTGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACA TGCATAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCC TCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTC ACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCACGTAAC AGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGT CTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGC ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCAGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTC ACGTAACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTTCACATAAC AGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCT AGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAGAGGAA CATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCAT AGCCCTCAGTTCACGTAACAGCAGTGTCTAGAGGAACATGCATAGCCCTC AGTTCACGTAACAACAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCAC GTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA CAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACATAACAGTGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACA TGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAG CCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGT TCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATA ACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAG TGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAACA TGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGCAACATGCATAG CCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTC ACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAAC AACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGTCTAGAG GAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATG TATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTT CACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTC TGGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAA CATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCAT AGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC ATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAG CAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTC TAGAGCAACATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACA TGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAG CCCTCAGTTCACATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACGT AACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACA GTGTCTAGAGGAACATGTATAGCCCTCAGTTCACGTAACAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAAC ATGCATAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTT CACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCACGTAA CAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAG GAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTT CACGTAACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTTCACATAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTC TAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCATCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACGTAACAGCAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCA CGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACA GCAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACGTAACAACAGTGT CTAGAGGAACATGCATAGCCCTCAGTTCATGTAACAACAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAACAGCAGTGCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCA CATAACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCAT CTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGCATCTAGAGG AACATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATA GCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCA GTTCACATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACG TAACAACAGTATCTAGAGGAACATGCATAGCCCTCAGTTCACATAATAGC AGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACATAACAACAGTGTCT AGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAA CATGCATAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGC CCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGT TCACATACCAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCACGTA ACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGC GTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAGA GGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACAT GCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGC CCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGT TCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCATGTA ACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAG TGCTAGAGGAACATG |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C C |
CCACTGAA others(5236): Show CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGAT ACCACTGAAGGGATATGCAAGAGACTGAATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGAT AGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGG ATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTG ATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTTACTGTGTGTTTACGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGGAC TGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAT GTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATT CCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACCGTGTGTTTA CGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT TTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGGATATGCAAGAGGACTGATAGCTTCATTCCTCACT GTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATGCACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTG ATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGTGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATGCACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATGCACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT AACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAG |
intron_variant intron_variant |
MODIFIER | NA18972.hp1 NA18972.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0300 | 1 | 344 | 0.0029 | 5243 | c.127 others(5260): Show c.127-2793_127-2792insCACTGTGTGTTTACGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGAATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGA TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTACGTATACCACAGATACCACTGAAGGG ATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACA CAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACT GTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTTACTGTGTGTTTACGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATAC ACAGATACCACTGAAGGGATATGCAAGAGGACTGATAGCTTCATTCCTCA CTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAA GGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTAT ACACAGATACCACTGAAGGGATATGCAAGAGGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACG TATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACCGTGTGTTTACGTATACACAGATACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAC GTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATT CCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTTTTTATGTATACACAGAT AACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGGAT ATGCAAGAGGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATGCACAGATACCACTGAAGGGATATGCAAGAGACTGAT AGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGG ATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACA CAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACT GTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAA GGGATATGCAAGTGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTAT ACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATGCACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATGCACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAT GTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATAGCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCT |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |