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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0002c0003t0001 | a0001c0001t0002g0064a0001c0001t0002g0084a0001c0001t0008g0115others(4): Show | 7 | 174 | 0.0402 | 7 | c.386 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114261300 | T | TCGAGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(120): Show |
a0001a0002a0003others(29): Show | a0001c0002a0001c0003a0001c0016others(80): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(100): Show | a0001c0002t0001g0121a0001c0002t0002g0001a0001c0002t0002g0052others(119): Show | 123 | 308 | 0.3994 | 7 | c.319 others(26): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 28/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114269634 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0016a0001c0139others(17): Show | a0001c0002t0023a0001c0016t0001a0001c0016t0012others(18): Show | a0001c0002t0023g0043a0001c0016t0001g0247a0001c0016t0012g0145others(20): Show | 23 | 308 | 0.0747 | 7 | c.355 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 35/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7362250 | A | ATTCTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(141): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0007others(39): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(49): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0042others(141): Show | 144 | 196 | 0.7347 | 7 | c.306 others(26): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 33/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG02004.hp2 HG02080.hp2 others(3): Show |
a0001a0002a0013 | a0001c0001a0002c0004a0013c0011 | a0001c0001t0001a0001c0001t0002a0002c0004t0003others(1): Show | a0001c0001t0001g0050a0001c0001t0002g0051a0002c0004t0003g0186others(3): Show | 6 | 196 | 0.0306 | 7 | c.703 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47999634 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00735.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0018a0002c0001others(9): Show | a0001c0002t0001a0001c0018t0003a0002c0001t0001others(11): Show | a0001c0002t0001g0005a0001c0002t0001g0141a0001c0002t0001g0146others(19): Show | 41 | 414 | 0.0990 | 7 | c.292 others(22): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 2/53 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(140): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(123): Show | 143 | 376 | 0.3803 | 7 | c.-15 others(18): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189007140 | T | TATATATA | intron_variant | MODIFIER | HG02723.hp1 HG03688.hp1 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0048a0002c0002t0001g0254a0002c0002t0001g0277 | 3 | 376 | 0.0080 | 7 | c.325 others(24): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01981.hp1 HG02735.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0071others(10): Show | 13 | 344 | 0.0378 | 7 | c.*49 others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110438810 | C | CCTCCACA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0005others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(43): Show | a0001c0002t0001g0101a0001c0002t0001g0180a0001c0002t0002g0308others(62): Show | 65 | 372 | 0.1747 | 7 | c.912 others(22): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110440877 | G | GTAACGGA | intron_variant | MODIFIER | HG02738.hp2 HG03688.hp2 HG04115.hp2 |
a0001a0004 | a0001c0001a0004c0009a0004c0081 | a0001c0001t0002a0004c0009t0002a0004c0081t0001 | a0001c0001t0002g0306a0004c0009t0002g0325a0004c0081t0001g0246 | 3 | 372 | 0.0081 | 7 | c.957 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227188068 | T | TTTAACTA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02004.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0047a0002c0007others(3): Show | a0001c0001t0001a0001c0047t0002a0002c0007t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(13): Show | 16 | 344 | 0.0465 | 7 | c.87+ others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227205710 | A | ATTTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG01943.hp1 HG02109.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0011others(2): Show | a0001c0001t0002a0002c0004t0001a0003c0011t0001others(4): Show | a0001c0001t0002g0344a0002c0004t0001g0168a0003c0011t0001g0090others(7): Show | 10 | 344 | 0.0291 | 7 | c.88- others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227235772 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01169.hp1 HG01433.hp2 others(24): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0002a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0119a0001c0001t0001g0219a0001c0001t0002g0084others(24): Show | 27 | 344 | 0.0785 | 7 | c.88- others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249226 | A | ATTTTTTT | intron_variant | MODIFIER | HG02074.hp1 HG02132.hp1 NA18612.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0017a0007c0006t0005 | a0001c0001t0001g0122a0001c0001t0001g0198a0001c0001t0017g0209others(1): Show | 4 | 344 | 0.0116 | 7 | c.546 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227285277 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01496.hp1 others(29): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0047a0005c0005others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0050a0001c0001t0002g0056a0001c0001t0002g0057others(29): Show | 32 | 344 | 0.0930 | 7 | c.288 others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 34/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227020880 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG03098.hp1 others(4): Show |
a0020a0027a0033others(3): Show | a0020c0041a0020c0054a0027c0047others(4): Show | a0020c0041t0010a0020c0054t0010a0027c0047t0015others(4): Show | a0020c0041t0010g0028a0020c0054t0010g0020a0027c0047t0015g0025others(4): Show | 7 | 284 | 0.0247 | 7 | c.421 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045831 | T | TTTAGATA | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02818.hp2 others(8): Show |
a0002a0004a0008others(2): Show | a0002c0019a0004c0004a0008c0008others(4): Show | a0002c0019t0005a0004c0004t0020a0008c0008t0009others(4): Show | a0002c0019t0005g0029a0002c0019t0005g0166a0004c0004t0020g0217others(8): Show | 11 | 284 | 0.0387 | 7 | c.328 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01175.hp1 others(15): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0070a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0017a0001c0070t0039others(10): Show | a0001c0001t0001g0034a0001c0001t0001g0040a0001c0001t0001g0050others(15): Show | 18 | 284 | 0.0634 | 7 | c.216 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227089673 | C | CTTTGACT | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01255.hp2 others(30): Show |
a0003a0017a0019others(4): Show | a0003c0003a0003c0014a0003c0026others(8): Show | a0003c0003t0003a0003c0003t0031a0003c0014t0002others(9): Show | a0003c0003t0003g0004a0003c0003t0003g0005a0003c0003t0003g0006others(30): Show | 33 | 284 | 0.1162 | 7 | c.145 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227142075 | C | CTTTAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(78): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0010a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0044others(77): Show | 81 | 284 | 0.2852 | 7 | c.115 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTTTT | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0217 | 1 | 269 | 0.0037 | 7 | c.81+ others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A6_chrX_108150614_108443422 | 108343159 | A | AGTGTGTG | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0037 | 1 | 234 | 0.0043 | 7 | c.64- others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134679156 | T | TTGTCTTG | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0001 | a0001c0006a0001c0031 | a0001c0006t0048a0001c0031t0006 | a0001c0006t0048g0047a0001c0031t0006g0048 | 2 | 272 | 0.0074 | 7 | c.110 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134784947 | T | TGTGTGTG | intron_variant | MODIFIER | HG02155.hp2 HG03688.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0028 | a0001c0001t0003a0001c0001t0031a0001c0002t0002others(1): Show | a0001c0001t0003g0146a0001c0001t0031g0075a0001c0002t0002g0096others(1): Show | 4 | 272 | 0.0147 | 7 | c.248 others(22): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 29/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134784955 | G | GGGGGGCA | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01169.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(10): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0020others(13): Show | a0001c0001t0009g0233a0001c0001t0010g0098a0001c0001t0020g0194others(15): Show | 18 | 272 | 0.0662 | 7 | c.248 others(22): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 29/65 | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134791748 | G | GATTTGGA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(74): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0001t0001g0088others(112): Show | 115 | 272 | 0.4228 | 7 | c.270 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134829587 | C | CCTCCAGT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0009a0001c0005t0022a0001c0007t0017others(1): Show | a0001c0001t0009g0233a0001c0005t0022g0085a0001c0007t0017g0241others(1): Show | 4 | 272 | 0.0147 | 7 | c.506 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp1 HG02451.hp2 others(2): Show |
a0001a0010a0013 | a0001c0001a0001c0002a0010c0024others(1): Show | a0001c0001t0001a0001c0002t0020a0010c0024t0004others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0002t0020g0038others(2): Show | 5 | 248 | 0.0202 | 7 | c.208 others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189072765 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG03225.hp2 HG03516.hp1 others(3): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0002t0009a0001c0002t0014others(3): Show | a0001c0001t0004g0149a0001c0002t0009g0162a0001c0002t0014g0244others(3): Show | 6 | 248 | 0.0242 | 7 | c.110 others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9988851 | A | AAAGAGAG | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG02109.hp2 others(15): Show |
a0001a0006a0013others(7): Show | a0001c0142a0006c0022a0013c0008others(8): Show | a0001c0142t0001a0006c0022t0011a0013c0008t0001others(8): Show | a0001c0142t0001g0284a0006c0022t0011g0117a0013c0008t0001g0044others(15): Show | 18 | 412 | 0.0437 | 7 | c.214 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9990392 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG03579.hp1 HG03654.hp1 others(3): Show |
a0004a0009a0010others(3): Show | a0004c0010a0009c0007a0010c0119others(3): Show | a0004c0010t0004a0009c0007t0024a0010c0119t0002others(3): Show | a0004c0010t0004g0161a0009c0007t0024g0109a0010c0119t0002g0397others(3): Show | 6 | 412 | 0.0146 | 7 | c.199 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 24/66 | chr19 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46099889 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 12 | 372 | 0.0323 | 7 | c.-28 others(24): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46099889 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0003others(3): Show | a0001c0001t0001g0103a0001c0001t0001g0130a0001c0001t0001g0229others(8): Show | 12 | 364 | 0.0330 | 7 | c.-28 others(24): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636796 | C | CCTCCCCT | intron_variant | MODIFIER | HG01069.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
a0002a0005a0007others(2): Show | a0002c0002a0005c0003a0007c0017others(2): Show | a0002c0002t0004a0005c0003t0001a0007c0017t0001others(2): Show | a0002c0002t0004g0202a0005c0003t0001g0005a0007c0017t0001g0009others(2): Show | 6 | 264 | 0.0227 | 7 | c.509 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130636944 | C | CGCCCTTT | intron_variant | MODIFIER | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
a0006a0007a0025 | a0006c0015a0007c0072a0025c0073others(1): Show | a0006c0015t0004a0007c0072t0020a0025c0073t0028others(1): Show | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | 264 | 0.0152 | 7 | c.509 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069605 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0011a0001c0001t0001g0303a0001c0001t0001g0304others(2): Show | 6 | 388 | 0.0155 | 7 | c.148 others(24): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3607449 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(186): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(181): Show | 189 | 378 | 0.5000 | 7 | c.130 others(24): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3625625 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(142): Show |
a0001a0002a0006 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(137): Show | 145 | 378 | 0.3836 | 7 | c.203 others(26): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 325627 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01243.hp2 others(10): Show |
a0001a0003a0006 | a0001c0003a0001c0004a0003c0002others(2): Show | a0001c0003t0002a0001c0003t0016a0001c0003t0027others(8): Show | a0001c0003t0002g0198a0001c0003t0002g0199a0001c0003t0016g0328others(10): Show | 13 | 366 | 0.0355 | 7 | c.206 others(26): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 335732 | C | CGTGTACT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp2 others(6): Show |
a0003 | a0003c0002a0003c0010 | a0003c0002t0033a0003c0002t0043a0003c0002t0158others(6): Show | a0003c0002t0033g0309a0003c0002t0043g0334a0003c0002t0158g0345others(6): Show | 9 | 366 | 0.0246 | 7 | c.132 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 340074 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(35): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0002 | a0001c0004t0024a0001c0004t0036a0001c0004t0037others(29): Show | a0001c0004t0024g0017a0001c0004t0036g0271a0001c0004t0036g0315others(35): Show | 38 | 366 | 0.1038 | 7 | c.132 others(26): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 445635 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0002c0001others(2): Show | a0001c0003t0002a0001c0003t0041a0001c0003t0092others(4): Show | a0001c0003t0002g0198a0001c0003t0041g0050a0001c0003t0092g0337others(4): Show | 7 | 366 | 0.0191 | 7 | c.58+ others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17569891 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01069.hp2 others(31): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0015 | a0001c0001t0024a0001c0003t0004a0001c0003t0009others(6): Show | a0001c0001t0024g0076a0001c0001t0024g0077a0001c0003t0004g0001others(16): Show | 34 | 396 | 0.0859 | 7 | c.829 others(24): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
COLGALT1_chr19_17550649_17588157 | 17584073 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0042a0001c0001t0046 | a0001c0001t0008g0020a0001c0001t0008g0037a0001c0001t0008g0038others(8): Show | 13 | 396 | 0.0328 | 7 | c.*26 others(18): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 917 | chr19 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183936488 | T | TTCTTAAA | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02109.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0035a0001c0001t0039 | a0001c0001t0016g0148a0001c0001t0016g0201a0001c0001t0016g0209others(2): Show | 5 | 340 | 0.0147 | 7 | c.*22 others(18): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 12/12 | 2272 | chr1 | TogoVar | |||||
COLQ_chr3_15445133_15526706 | 15457623 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(195): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0015others(169): Show | 198 | 382 | 0.5183 | 7 | c.954 others(22): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 13/16 | chr3 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116163423 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(15): Show | 18 | 350 | 0.0514 | 7 | c.510 others(26): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116291759 | A | AGAGAATT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01256.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(22): Show | 25 | 350 | 0.0714 | 7 | c.570 others(22): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 6/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0324a0001c0001t0001g0325a0001c0001t0001g0328others(6): Show | 9 | 350 | 0.0257 | 7 | c.*31 others(18): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar |