view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL24A1_chr1_85724233_86161772 | 85997041 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02135.hp1 HG06807.hp1 others(6): Show |
a0001a0008a0009others(4): Show | a0001c0001a0008c0006a0009c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0008c0006t0001others(5): Show | a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0002g0113 others(6): Show |
9 | 238 | 0.0378 | 14 | c.231 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86108620 | T | TAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 |
a0002a0017 | a0002c0027a0017c0023 | a0002c0027t0008a0017c0023t0004 | a0002c0027t0008g0064 a0017c0023t0004g0108 |
2 | 238 | 0.0084 | 14 | c.159 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108806165 | A | ATTTAATA others(7): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(14): Show | a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 others(46): Show |
49 | 130 | 0.3769 | 14 | c.*77 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 2559 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807815 | C | CATACATA others(7): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 130 | 0.0077 | 14 | c.*61 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 909 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807833 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0092 a0001c0001t0004g0019 a0001c0001t0012g0096 others(1): Show |
4 | 130 | 0.0308 | 14 | c.*60 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 891 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG02280.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0059 a0001c0001t0002g0058 a0001c0001t0002g0063 others(11): Show |
14 | 130 | 0.1077 | 14 | c.184 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886492 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02523.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0002 a0001c0002t0004g0028 |
2 | 130 | 0.0154 | 14 | c.976 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886492 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 130 | 0.0077 | 14 | c.976 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108913261 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0069 a0001c0001t0002g0105 a0001c0001t0003g0016 others(13): Show |
16 | 130 | 0.1231 | 14 | c.780 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 13/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108936800 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 130 | 0.0077 | 14 | c.708 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 11/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990272 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 130 | 0.0077 | 14 | c.439 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109000743 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0112 | 1 | 130 | 0.0077 | 14 | c.438 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109006378 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0029 | a0001c0004t0029g0095 | 1 | 130 | 0.0077 | 14 | c.438 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019373 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0004 | a0001c0001t0007g0090 a0001c0004t0004g0027 |
2 | 130 | 0.0154 | 14 | c.421 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 130 | 0.0077 | 14 | c.421 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109137984 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 130 | 0.0077 | 14 | c.368 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109137984 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 130 | 0.0077 | 14 | c.368 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0079 others(6): Show |
9 | 130 | 0.0692 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG02293.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0002 | a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0099 others(3): Show |
6 | 130 | 0.0462 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254505 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0011 | a0003c0011t0007 | a0003c0011t0007g0061 | 1 | 130 | 0.0077 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254505 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02451.hp2 HG02523.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0004a0001c0003t0001 | a0001c0001t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 others(1): Show |
4 | 130 | 0.0308 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254509 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 130 | 0.0077 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109256085 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 130 | 0.0077 | 14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0012 a0004c0011t0003g0038 |
2 | 174 | 0.0115 | 14 | c.158 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387772 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 174 | 0.0058 | 14 | c.158 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387774 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01258.hp1 |
a0002a0004 | a0002c0007a0004c0011 | a0002c0007t0004a0004c0011t0003 | a0002c0007t0004g0037 a0004c0011t0003g0012 a0004c0011t0003g0038 |
3 | 174 | 0.0172 | 14 | c.158 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101414432 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0017 | a0001c0001t0011a0003c0017t0006 | a0001c0001t0011g0120 a0003c0017t0006g0006 |
2 | 174 | 0.0115 | 14 | c.159 others(31): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101439553 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01081.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0006others(5): Show | a0001c0001t0002g0136 a0001c0001t0005g0059 a0001c0001t0005g0079 others(15): Show |
18 | 174 | 0.1035 | 14 | c.282 others(31): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101446046 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0002a0001c0008t0007a0002c0003t0001others(1): Show | a0001c0001t0002g0136 a0001c0008t0007g0069 a0001c0008t0007g0077 others(3): Show |
6 | 174 | 0.0345 | 14 | c.282 others(31): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463771 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20300.hp1 |
a0003 | a0003c0010a0003c0018 | a0003c0010t0022a0003c0018t0019 | a0003c0010t0022g0166 a0003c0018t0019g0005 |
2 | 174 | 0.0115 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466795 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 | 1 | 174 | 0.0058 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0134 | 1 | 174 | 0.0058 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0011a0002c0006t0004 | a0001c0001t0011g0108 a0002c0006t0004g0016 |
2 | 174 | 0.0115 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18522.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0084 a0001c0001t0002g0132 a0001c0001t0009g0153 |
3 | 174 | 0.0172 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101482328 | T | TGATGTTT others(7): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 174 | 0.0058 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101483990 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 NA18906.hp1 others(1): Show |
a0002a0003a0008 | a0002c0004a0003c0010a0003c0017others(1): Show | a0002c0004t0024a0003c0010t0005a0003c0017t0006others(1): Show | a0002c0004t0024g0095 a0003c0010t0005g0165 a0003c0017t0006g0006 others(1): Show |
4 | 174 | 0.0230 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489699 | G | GTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0002t0003others(3): Show | a0001c0001t0002g0061 a0001c0001t0002g0081 a0001c0001t0002g0083 others(15): Show |
18 | 174 | 0.1035 | 14 | c.385 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0165 | 1 | 174 | 0.0058 | 14 | c.386 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520633 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0006a0001c0005t0002others(5): Show | a0001c0001t0002g0151 a0001c0002t0006g0022 a0001c0005t0002g0155 others(12): Show |
15 | 174 | 0.0862 | 14 | c.386 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520660 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0129 | 1 | 174 | 0.0058 | 14 | c.386 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520662 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0020 | a0001c0001t0002g0174 a0001c0002t0020g0001 |
2 | 174 | 0.0115 | 14 | c.386 others(33): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114233420 | T | TCCAGCCA others(7): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02258.hp2 others(3): Show |
a0001a0010a0027others(1): Show | a0001c0121a0001c0123a0010c0040others(2): Show | a0001c0121t0001a0001c0123t0014a0010c0040t0006others(2): Show | a0001c0121t0001g0041 a0001c0123t0014g0208 a0010c0040t0006g0044 others(3): Show |
6 | 308 | 0.0195 | 14 | c.256 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 16/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383682 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 196 | 0.0051 | 14 | c.213 others(33): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7400975 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 196 | 0.0051 | 14 | c.213 others(35): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG02683.hp1 NA18940.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0021 a0001c0006t0001g0003 a0001c0006t0001g0041 |
4 | 414 | 0.0097 | 14 | c.-38 others(25): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01167.hp1 HG01257.hp2 others(14): Show |
a0002a0003a0009 | a0002c0001a0003c0005a0003c0012others(1): Show | a0002c0001t0002a0002c0001t0005a0003c0005t0002others(3): Show | a0002c0001t0002g0001 a0002c0001t0002g0004 a0002c0001t0002g0014 others(7): Show |
17 | 414 | 0.0411 | 14 | c.-38 others(25): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 414 | 0.0024 | 14 | c.-38 others(25): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008152 | A | AAGAAAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0091 | 1 | 414 | 0.0024 | 14 | c.-38 others(25): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3677 | chr12 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 376 | 0.0053 | 14 | c.-15 others(25): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 189007096 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 | 1 | 376 | 0.0027 | 14 | c.325 others(31): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |