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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL19A1_chr6_69861556_70217468 | 70118814 | GTTGTGCC others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00741.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(26): Show | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0053others(67): Show | 70 | 182 | 0.3846 | -14 | c.127 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A1_chr17_50179101_50206631 | 50199698 | AGCCCCAG others(7): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 448 | 0.0022 | -14 | c.298 others(27): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 2/50 | chr17 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63297357 | CCAGCTCA others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 290 | 0.0035 | -14 | c.83- others(27): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGTG others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG03669.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0232a0002c0003t0003g0044 | 2 | 264 | 0.0076 | -14 | c.*37 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(7): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0006 | 1 | 264 | 0.0038 | -14 | c.-38 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138623262 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp1 |
a0002a0008 | a0002c0009a0008c0055 | a0002c0009t0001a0008c0055t0005 | a0002c0009t0001g0104a0008c0055t0005g0148 | 2 | 158 | 0.0127 | -14 | c.377 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652735 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 158 | 0.0063 | -14 | c.333 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660895 | CACAAACA others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG03209.hp1 |
a0001 | a0001c0010a0001c0012 | a0001c0010t0001a0001c0012t0005 | a0001c0010t0001g0025a0001c0010t0001g0027a0001c0012t0005g0143 | 3 | 158 | 0.0190 | -14 | c.324 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138661025 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02280.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0006a0001c0008others(16): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0002others(20): Show | a0001c0002t0001g0100a0001c0006t0001g0062a0001c0006t0001g0113others(21): Show | 24 | 158 | 0.1519 | -14 | c.324 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 158 | 0.0063 | -14 | c.275 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(50): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(32): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(50): Show | 53 | 158 | 0.3354 | -14 | c.214 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178232828 | TCGCCCCG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0002a0011 | a0002c0003a0011c0013 | a0002c0003t0005a0011c0013t0005 | a0002c0003t0005g0066a0002c0003t0005g0115a0002c0003t0005g0131others(2): Show | 5 | 236 | 0.0212 | -14 | c.*58 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 4789 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178302061 | CCTCTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0056a0001c0001t0002g0083a0001c0001t0002g0153others(54): Show | 57 | 236 | 0.2415 | -14 | c.406 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178357766 | ATGTATGT others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0117 | 1 | 236 | 0.0042 | -14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178357794 | GTATGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02630.hp1 |
a0002a0003a0004 | a0002c0003a0003c0005a0004c0006 | a0002c0003t0002a0003c0005t0002a0004c0006t0003 | a0002c0003t0002g0112a0003c0005t0002g0005a0004c0006t0003g0130 | 3 | 236 | 0.0127 | -14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358727 | GTGTGTAT others(7): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0021others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0116a0001c0001t0003g0210a0001c0001t0004g0011others(16): Show | 19 | 236 | 0.0805 | -14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178408975 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0142a0001c0001t0005g0133 | 2 | 236 | 0.0085 | -14 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178409009 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 236 | 0.0042 | -14 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178489005 | CTCTGCCC others(7): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 236 | 0.0042 | -14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01256.hp2 HG01928.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0056a0001c0001t0002g0148a0001c0001t0004g0081others(1): Show | 4 | 236 | 0.0170 | -14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517870 | GTTCTTTT others(7): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 236 | 0.0042 | -14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517873 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 236 | 0.0042 | -14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178578045 | GCATGCAC others(7): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 236 | 0.0042 | -14 | c.294 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85764455 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01981.hp1 NA18961.hp1 NA18984.hp1 |
a0006a0025a0046 | a0006c0017a0025c0033a0046c0070 | a0006c0017t0006a0025c0033t0001a0046c0070t0002 | a0006c0017t0006g0009a0025c0033t0001g0231a0046c0070t0002g0204 | 3 | 238 | 0.0126 | -14 | c.437 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85788219 | TAGCTGGG others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 |
a0002a0003 | a0002c0003a0003c0027 | a0002c0003t0008a0003c0027t0008 | a0002c0003t0008g0150a0003c0027t0008g0064 | 2 | 238 | 0.0084 | -14 | c.395 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85802048 | AGTCTAGT others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0207 | 1 | 238 | 0.0042 | -14 | c.395 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85945002 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0010 | a0007c0010t0004 | a0007c0010t0004g0149 | 1 | 238 | 0.0042 | -14 | c.256 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86005087 | GGACAGTG others(7): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 NA18906.hp1 |
a0004 | a0004c0002 | a0004c0002t0001a0004c0002t0002a0004c0002t0004 | a0004c0002t0001g0151a0004c0002t0002g0140a0004c0002t0004g0206 | 3 | 238 | 0.0126 | -14 | c.231 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108966944 | GGAAAGAA others(7): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 130 | 0.0077 | -14 | c.492 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990229 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0008 | a0001c0001t0002g0117a0001c0003t0008g0036 | 2 | 130 | 0.0154 | -14 | c.439 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990231 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03453.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0022a0001c0004t0004 | a0001c0001t0006g0076a0001c0002t0022g0073a0001c0004t0004g0027 | 3 | 130 | 0.0231 | -14 | c.439 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990233 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 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 | 108990235 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0001 | a0001c0001t0026g0046a0001c0002t0001g0130 | 2 | 130 | 0.0154 | -14 | c.439 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109000755 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0042 | 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 | 109008744 | TACATGCG others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0048others(86): Show | 89 | 130 | 0.6846 | -14 | c.438 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109044088 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 130 | 0.0077 | -14 | c.420 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109211260 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0068a0001c0001t0001g0081a0001c0001t0001g0119others(9): Show | 12 | 130 | 0.0923 | -14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109211290 | CTATATAT others(7): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0126a0001c0001t0002g0129a0001c0001t0011g0044 | 3 | 130 | 0.0231 | -14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109225996 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0083 | 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 | 109256153 | AAAAGAGT others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0068a0001c0001t0001g0074others(8): Show | 11 | 130 | 0.0846 | -14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109265518 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03195.hp2 HG03942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0121a0001c0001t0002g0088a0001c0004t0001g0040 | 3 | 130 | 0.0231 | -14 | c.367 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387740 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 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 | 101473608 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02055.hp2 HG03041.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0008a0001c0009t0003a0002c0003t0001others(1): Show | a0001c0001t0008g0169a0001c0009t0003g0026a0002c0003t0001g0088others(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 | 101486268 | ACAGACAG others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00673.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0018a0001c0005t0002others(2): Show | a0001c0001t0002g0074a0001c0001t0002g0080a0001c0001t0002g0093others(7): Show | 10 | 174 | 0.0575 | -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 | 101489754 | CTCTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0075 | 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 | 101517798 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0149 | 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 | |||||
COL28A1_chr7_7352875_7540873 | 7400975 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0123 | 1 | 196 | 0.0051 | -14 | c.213 others(35): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(22): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0090others(76): Show | 79 | 196 | 0.4031 | -14 | c.703 others(29): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47987031 | GACTCCAG others(7): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0184 | 1 | 414 | 0.0024 | -14 | c.136 others(29): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 21/53 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008111 | GAGAGAGA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 NA19004.hp2 NA19010.hp1 others(3): Show |
a0001a0004 | a0001c0006a0001c0042a0004c0010 | a0001c0006t0001a0001c0042t0001a0004c0010t0001 | a0001c0006t0001g0003a0001c0006t0001g0042a0001c0042t0001g0186others(2): Show | 6 | 414 | 0.0145 | -14 | c.-38 others(25): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3636 | chr12 | TogoVar |