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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0173 a0001c0001t0002g0018 a0001c0001t0002g0034 others(141): Show |
144 | 194 | 0.7423 | 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 |
a0001a0002a0010 | a0001c0001a0002c0004a0010c0011 | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0051 a0001c0001t0002g0050 a0002c0004t0001g0186 others(3): Show |
6 | 15 | 0.4000 | 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 | a0001c0002t0001g0005 a0001c0002t0001g0140 a0001c0002t0001g0145 others(19): Show |
41 | 47 | 0.8723 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
143 | 188 | 0.7606 | 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 | a0001c0001t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0022 |
3 | 372 | 0.0081 | 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 | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0073 others(10): Show |
13 | 92 | 0.1413 | 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 | a0001c0002t0001g0101 a0001c0002t0001g0180 a0001c0002t0002g0308 others(62): Show |
65 | 82 | 0.7927 | 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 | a0001c0001t0002g0307 a0004c0009t0002g0325 a0004c0081t0001g0246 |
3 | 370 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show |
16 | 342 | 0.0468 | 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 | a0001c0001t0002g0344 a0002c0004t0001g0089 a0003c0011t0001g0143 others(7): Show |
10 | 253 | 0.0395 | 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 | a0001c0001t0001g0173 a0001c0001t0001g0196 a0001c0001t0002g0084 others(24): Show |
27 | 42 | 0.6429 | 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 | a0001c0001t0001g0121 a0001c0001t0001g0175 a0001c0001t0017g0132 others(1): Show |
4 | 339 | 0.0118 | 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 |
a0001a0005a0011others(1): Show | a0001c0001a0001c0047a0005c0005others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 others(29): Show |
32 | 87 | 0.3678 | 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 |
a0020a0027a0028others(3): Show | a0020c0041a0020c0054a0027c0047others(4): Show | a0020c0041t0010a0020c0054t0010a0027c0047t0015others(4): Show | a0020c0041t0010g0028 a0020c0054t0010g0020 a0027c0047t0015g0025 others(4): Show |
7 | 140 | 0.0500 | 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 | a0002c0019t0005g0029 a0002c0019t0005g0167 a0004c0004t0020g0221 others(8): Show |
11 | 280 | 0.0393 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0051 others(15): Show |
18 | 99 | 0.1818 | 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 |
a0003a0021a0022others(4): Show | a0003c0003a0003c0014a0003c0026others(8): Show | a0003c0003t0003a0003c0003t0031a0003c0014t0002others(9): Show | a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 others(30): Show |
33 | 282 | 0.1170 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0044 others(77): Show |
81 | 282 | 0.2872 | 7 | c.115 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134679156 | T | TTGTCTTG | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0001 | a0001c0006a0001c0031 | a0001c0006t0048a0001c0031t0006 | a0001c0006t0048g0047 a0001c0031t0006g0048 |
2 | 270 | 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 | a0001c0001t0003g0146 a0001c0001t0031g0075 a0001c0002t0002g0096 others(1): Show |
4 | 270 | 0.0148 | 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 | a0001c0001t0009g0233 a0001c0001t0010g0098 a0001c0001t0020g0196 others(15): Show |
18 | 228 | 0.0789 | 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(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(74): Show | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0088 others(111): Show |
114 | 269 | 0.4238 | 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 | a0001c0001t0009g0233 a0001c0005t0022g0086 a0001c0007t0017g0241 others(1): Show |
4 | 270 | 0.0148 | 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 |
a0001a0010a0015 | a0001c0001a0001c0002a0010c0024others(1): Show | a0001c0001t0001a0001c0002t0020a0010c0024t0004others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0002t0020g0038 others(2): Show |
5 | 41 | 0.1220 | 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 |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0002t0009a0001c0002t0014others(3): Show | a0001c0001t0004g0149 a0001c0002t0009g0161 a0001c0002t0014g0244 others(3): Show |
6 | 95 | 0.0632 | 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 |
a0001a0007a0014others(7): Show | a0001c0142a0007c0022a0014c0008others(8): Show | a0001c0142t0001a0007c0022t0011a0014c0008t0001others(8): Show | a0001c0142t0001g0147 a0007c0022t0011g0184 a0014c0008t0001g0044 others(15): Show |
18 | 348 | 0.0517 | 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 | a0004c0010t0004g0170 a0009c0007t0024g0142 a0010c0119t0002g0297 others(3): Show |
6 | 271 | 0.0221 | 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 | a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0130 others(7): Show |
12 | 82 | 0.1463 | 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 | a0001c0001t0001g0104 a0001c0001t0001g0131 a0001c0001t0001g0228 others(8): Show |
12 | 83 | 0.1446 | 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 | a0002c0002t0004g0202 a0005c0003t0001g0005 a0007c0017t0001g0009 others(2): Show |
6 | 262 | 0.0229 | 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 |
a0006a0007a0022 | a0006c0015a0007c0072a0022c0073others(1): Show | a0006c0015t0004a0007c0072t0020a0022c0073t0028others(1): Show | a0006c0015t0004g0225 a0007c0072t0020g0190 a0022c0073t0028g0218 others(1): Show |
4 | 262 | 0.0153 | 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 | a0001c0001t0001g0028 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show |
6 | 271 | 0.0221 | 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(185): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(180): Show |
188 | 332 | 0.5663 | 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(141): Show |
a0001a0002a0006 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(136): Show |
144 | 206 | 0.6990 | 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 |
a0001a0003a0005 | a0001c0003a0001c0004a0003c0002others(2): Show | a0001c0003t0003a0001c0003t0014a0001c0003t0027others(8): Show | a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0014g0327 others(10): Show |
13 | 41 | 0.3171 | 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 | a0003c0002t0034a0003c0002t0035a0003c0002t0048others(6): Show | a0003c0002t0034g0344 a0003c0002t0035g0308 a0003c0002t0048g0334 others(6): Show |
9 | 155 | 0.0581 | 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 | a0001c0004t0008a0001c0004t0016a0001c0004t0037others(28): Show | a0001c0004t0008g0017 a0001c0004t0016g0093 a0001c0004t0016g0267 others(35): Show |
38 | 206 | 0.1845 | 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 | a0001c0003t0003a0001c0003t0006a0001c0003t0097others(4): Show | a0001c0003t0003g0189 a0001c0003t0006g0051 a0001c0003t0097g0339 others(4): Show |
7 | 25 | 0.2800 | 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 |
a0001a0006 | a0001c0001a0001c0003a0006c0015 | a0001c0001t0024a0001c0003t0004a0001c0003t0009others(6): Show | a0001c0001t0024g0076 a0001c0001t0024g0077 a0001c0003t0004g0001 others(16): Show |
34 | 114 | 0.2982 | 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 | a0001c0001t0008g0020 a0001c0001t0008g0037 a0001c0001t0008g0038 others(8): Show |
13 | 358 | 0.0363 | 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 | a0001c0001t0014a0001c0001t0033a0001c0001t0034 | a0001c0001t0014g0148 a0001c0001t0014g0200 a0001c0001t0014g0209 others(2): Show |
5 | 338 | 0.0148 | 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(194): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(168): Show |
197 | 346 | 0.5694 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(15): Show |
18 | 203 | 0.0887 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(20): Show |
25 | 348 | 0.0718 | 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 | a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 others(6): Show |
9 | 112 | 0.0804 | 7 | c.*31 others(18): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 61933772 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(129): Show |
132 | 280 | 0.4714 | 7 | c.180 others(26): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62003641 | C | CACACACA | intron_variant | MODIFIER | HG00423.hp1 HG02698.hp2 NA18960.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0055 others(2): Show |
5 | 283 | 0.0177 | 7 | c.462 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 62014542 | C | CTTTTTTT | intron_variant | MODIFIER | HG02056.hp1 NA18946.hp2 NA18949.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0240 others(6): Show |
9 | 11 | 0.8182 | 7 | c.462 others(26): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62127891 | A | ACATGCCT | intron_variant | MODIFIER | HG00408.hp2 HG01943.hp2 HG02056.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0001g0139 others(24): Show |
27 | 284 | 0.0951 | 7 | c.463 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75539228 | A | AGAATAAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0051 others(27): Show |
68 | 392 | 0.1735 | 7 | c.-14 others(18): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 1388 | chr13 | TogoVar |