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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178523201 | T | TATAGAGA others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03225.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0001 | a0001c0004t0002g0120 a0002c0002t0001g0057 |
2 | 236 | 0.0085 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523201 | T | TATATAGA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0058 a0001c0001t0005g0113 |
2 | 236 | 0.0085 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523243 | G | GGGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01943.hp1 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0004a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0004g0011 a0001c0001t0004g0043 a0001c0004t0001g0042 others(4): Show |
7 | 236 | 0.0297 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547471 | A | ACACAACC others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0003a0001c0004t0002a0002c0003t0001others(2): Show | a0001c0001t0003g0123 a0001c0001t0003g0170 a0001c0004t0002g0120 others(3): Show |
6 | 236 | 0.0254 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547471 | A | ACACACCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(160): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 others(160): Show |
163 | 236 | 0.6907 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178555971 | G | GCCTGCAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0014a0002c0003t0003others(1): Show | a0001c0001t0003g0067 a0001c0001t0014g0224 a0002c0003t0003g0158 others(2): Show |
5 | 236 | 0.0212 | 8 | c.361 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85740953 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01517.hp1 others(21): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0031a0003c0003others(11): Show | a0001c0001t0001a0002c0031t0004a0003c0003t0004others(11): Show | a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0001g0136 others(21): Show |
24 | 238 | 0.1008 | 8 | c.467 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 57/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85771775 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04115.hp1 HG04115.hp2 others(3): Show |
a0002a0005a0008others(1): Show | a0002c0007a0005c0013a0008c0006others(1): Show | a0002c0007t0002a0005c0013t0002a0008c0006t0002others(1): Show | a0002c0007t0002g0088 a0005c0013t0002g0138 a0008c0006t0002g0047 others(3): Show |
6 | 238 | 0.0252 | 8 | c.437 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85771778 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00741.hp1 others(48): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0007a0002c0016others(22): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0001others(26): Show | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0174 others(48): Show |
51 | 238 | 0.2143 | 8 | c.437 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85778023 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp1 others(105): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0005a0002c0007others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0134 others(105): Show |
108 | 238 | 0.4538 | 8 | c.433 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 52/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG02135.hp1 others(7): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0002a0005c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0004c0002t0001others(6): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0117 others(7): Show |
10 | 238 | 0.0420 | 8 | c.395 others(29): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG02615.hp2 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0041a0003c0003others(3): Show | a0001c0001t0002a0001c0041t0004a0003c0003t0001others(3): Show | a0001c0001t0002g0219 a0001c0041t0004g0148 a0003c0003t0001g0220 others(4): Show |
7 | 238 | 0.0294 | 8 | c.330 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02129.hp1 HG02257.hp2 others(4): Show |
a0002a0006a0008others(4): Show | a0002c0056a0006c0063a0008c0006others(4): Show | a0002c0056t0001a0006c0063t0002a0008c0006t0001others(4): Show | a0002c0056t0001g0089 a0006c0063t0002g0233 a0008c0006t0001g0056 others(4): Show |
7 | 238 | 0.0294 | 8 | c.330 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85858632 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01978.hp1 HG02280.hp2 others(3): Show |
a0002a0005 | a0002c0007a0002c0031a0005c0004 | a0002c0007t0002a0002c0031t0004a0005c0004t0001others(1): Show | a0002c0007t0002g0079 a0002c0007t0002g0080 a0002c0031t0004g0065 others(3): Show |
6 | 238 | 0.0252 | 8 | c.330 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945019 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01952.hp2 HG01978.hp2 others(9): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0002a0005c0004others(5): Show | a0001c0001t0001a0001c0001t0010a0004c0002t0001others(7): Show | a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0165 others(9): Show |
12 | 238 | 0.0504 | 8 | c.256 others(29): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85960883 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01884.hp1 others(5): Show |
a0004a0007a0008others(4): Show | a0004c0002a0007c0014a0008c0006others(4): Show | a0004c0002t0002a0007c0014t0001a0007c0014t0003others(5): Show | a0004c0002t0002g0209 a0007c0014t0001g0221 a0007c0014t0003g0235 others(5): Show |
8 | 238 | 0.0336 | 8 | c.256 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85969604 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG01934.hp1 others(14): Show |
a0001a0005a0007others(6): Show | a0001c0001a0001c0066a0005c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0066t0001others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0099 a0001c0001t0001g0114 others(14): Show |
17 | 238 | 0.0714 | 8 | c.246 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 22/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86082865 | C | CAAATCTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp2 HG01496.hp2 others(7): Show |
a0001a0016 | a0001c0001a0016c0029 | a0001c0001t0001a0001c0001t0002a0016c0029t0001 | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0159 others(7): Show |
10 | 238 | 0.0420 | 8 | c.170 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 7/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86107508 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | NA19082.hp2 NA19088.hp2 |
a0010a0049 | a0010c0009a0049c0037 | a0010c0009t0002a0049c0037t0002 | a0010c0009t0002g0053 a0049c0037t0002g0020 |
2 | 238 | 0.0084 | 8 | c.159 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108806518 | C | CTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG01993.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0001t0020a0001c0003t0024others(1): Show | a0001c0001t0002g0058 a0001c0001t0020g0035 a0001c0003t0024g0045 others(1): Show |
4 | 130 | 0.0308 | 8 | c.*74 others(19): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 2206 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108869190 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 others(24): Show |
27 | 130 | 0.2077 | 8 | c.102 others(23): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 19/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886492 | G | GTGTGTTT others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0019others(4): Show | a0001c0001t0002g0075 a0001c0001t0002g0105 a0001c0001t0007g0090 others(6): Show |
9 | 130 | 0.0692 | 8 | c.976 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886492 | G | GTGTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0114 a0001c0001t0002g0104 others(3): Show |
6 | 130 | 0.0462 | 8 | c.976 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108898977 | C | CTGTATCT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0067 a0001c0002t0013g0070 |
2 | 130 | 0.0154 | 8 | c.861 others(23): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 15/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108898985 | A | ATATATCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp2 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0068 others(58): Show |
61 | 130 | 0.4692 | 8 | c.861 others(23): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 15/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108936800 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0002g0085 others(14): Show |
17 | 130 | 0.1308 | 8 | c.708 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 11/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109026100 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02109.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0005others(5): Show | a0001c0001t0003g0005 a0001c0002t0003g0010 a0001c0002t0005g0065 others(6): Show |
9 | 130 | 0.0692 | 8 | c.421 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109051616 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0002g0056 others(6): Show |
9 | 130 | 0.0692 | 8 | c.368 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109051648 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02970.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001a0001c0002t0005 | a0001c0001t0005g0078 a0001c0002t0001g0052 a0001c0002t0005g0065 |
3 | 130 | 0.0231 | 8 | c.368 others(25): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109065532 | A | ACGCGCGC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0005a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0005g0078 a0001c0002t0001g0066 a0001c0002t0005g0042 others(1): Show |
4 | 130 | 0.0308 | 8 | c.368 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109104401 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0121 others(28): Show |
31 | 130 | 0.2385 | 8 | c.368 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109137984 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01175.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0007a0001c0004t0002 | a0001c0001t0001g0079 a0001c0002t0007g0115 a0001c0004t0002g0083 |
3 | 130 | 0.0231 | 8 | c.368 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109198294 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00741.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0002g0104 others(14): Show |
17 | 130 | 0.1308 | 8 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109218355 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0068 a0001c0001t0002g0117 a0001c0001t0002g0118 others(5): Show |
8 | 130 | 0.0615 | 8 | c.367 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01891.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0003g0018 a0001c0001t0006g0051 a0001c0001t0017g0003 others(2): Show |
5 | 130 | 0.0385 | 8 | c.367 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109288962 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119 a0001c0001t0002g0088 |
2 | 130 | 0.0154 | 8 | c.367 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109288962 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0079 a0001c0001t0026g0046 |
2 | 130 | 0.0154 | 8 | c.367 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101363601 | T | TGGGGCCG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03041.hp1 HG03209.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0113 others(5): Show |
8 | 174 | 0.0460 | 8 | c.158 others(23): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101384007 | A | AGTTTGTT others(1): Show |
intron_variant | MODIFIER | NA20300.hp1 NA21309.hp1 |
a0002a0003 | a0002c0004a0003c0018 | a0002c0004t0030a0003c0018t0019 | a0002c0004t0030g0170 a0003c0018t0019g0005 |
2 | 174 | 0.0115 | 8 | c.158 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101402656 | T | TTTCCTCC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03041.hp1 others(2): Show |
a0001a0002a0003 | a0001c0005a0002c0004a0003c0010others(2): Show | a0001c0005t0023a0002c0004t0001a0003c0010t0027others(2): Show | a0001c0005t0023g0116 a0002c0004t0001g0171 a0003c0010t0027g0172 others(2): Show |
5 | 174 | 0.0287 | 8 | c.159 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(6): Show | a0001c0001t0001g0114 a0001c0001t0002g0163 a0001c0005t0002g0149 others(7): Show |
10 | 174 | 0.0575 | 8 | c.159 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463869 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01070.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0005t0011a0001c0005t0012others(5): Show | a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0098 others(8): Show |
11 | 174 | 0.0632 | 8 | c.385 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01168.hp1 HG03492.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0015a0001c0002t0003others(2): Show | a0001c0001t0002g0086 a0001c0001t0002g0122 a0001c0001t0002g0173 others(4): Show |
7 | 174 | 0.0402 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0007t0004 | a0002c0004t0001g0171 a0002c0007t0004g0009 |
2 | 174 | 0.0115 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003others(2): Show | a0001c0002t0006a0001c0005t0005a0002c0003t0001others(2): Show | a0001c0002t0006g0010 a0001c0005t0005g0106 a0001c0005t0005g0144 others(5): Show |
8 | 174 | 0.0460 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 NA20300.hp1 |
a0002a0003 | a0002c0004a0003c0018a0003c0020 | a0002c0004t0001a0003c0018t0019a0003c0020t0008 | a0002c0004t0001g0168 a0003c0018t0019g0005 a0003c0020t0008g0066 |
3 | 174 | 0.0172 | 8 | c.385 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02258.hp1 HG02965.hp1 |
a0001a0002 | a0001c0005a0001c0014a0002c0003 | a0001c0005t0002a0001c0014t0009a0002c0003t0001 | a0001c0005t0002g0149 a0001c0014t0009g0099 a0002c0003t0001g0071 |
3 | 174 | 0.0172 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101475785 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0064 a0001c0001t0002g0084 a0002c0003t0001g0158 |
3 | 174 | 0.0172 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101475904 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03669.hp2 |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0003a0002c0003t0001 | a0001c0009t0003g0026 a0002c0003t0001g0088 |
2 | 174 | 0.0115 | 8 | c.385 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0005g0079 others(13): Show |
16 | 174 | 0.0920 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |