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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A1_chr6_70211126_70308084 | 70234299 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(21): Show |
a0002a0003a0005others(2): Show | a0002c0004a0003c0003a0005c0005others(2): Show | a0002c0004t0001a0003c0003t0001a0003c0003t0004others(3): Show | a0002c0004t0001g0105a0003c0003t0001g0226a0003c0003t0001g0231others(21): Show | 24 | 362 | 0.0663 | 5 | c.231 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 35/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AAAATT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0004t0003others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0164others(16): Show | 36 | 438 | 0.0822 | 5 | c.-39 others(16): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62839566 | C | CTCGCT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01175.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(16): Show | a0001c0001t0001g0020a0001c0001t0001g0175a0001c0001t0001g0176others(27): Show | 34 | 412 | 0.0825 | 5 | c.186 others(22): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 31/31 | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62841194 | A | ACATCT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp2 others(70): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0003a0001c0002t0003a0001c0004t0003others(25): Show | a0001c0001t0003g0007a0001c0001t0003g0027a0001c0001t0003g0179others(63): Show | 73 | 412 | 0.1772 | 5 | c.*46 others(14): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 36 | chr20 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069605 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0012a0001c0001t0001g0061a0001c0001t0001g0062others(13): Show | 17 | 388 | 0.0438 | 5 | c.148 others(22): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119077243 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01978.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0016a0001c0001t0001g0075a0001c0001t0001g0261others(17): Show | 21 | 388 | 0.0541 | 5 | c.148 others(22): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3625625 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(45): Show | 52 | 378 | 0.1376 | 5 | c.203 others(24): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319337 | A | ATATAT | 3_prime_UTR_variant | MODIFIER | NA18954.hp2 NA18979.hp2 NA18986.hp2 |
a0003 | a0003c0002 | a0003c0002t0032a0003c0002t0127 | a0003c0002t0032g0293a0003c0002t0032g0300a0003c0002t0127g0163 | 3 | 366 | 0.0082 | 5 | c.*70 others(14): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 707 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 325627 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01071.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(28): Show | a0001c0003t0001g0302a0001c0003t0002g0111a0001c0003t0004g0071others(31): Show | 34 | 366 | 0.0929 | 5 | c.206 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 338984 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01496.hp1 others(19): Show |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0019a0003c0002t0012a0003c0002t0031others(18): Show | a0002c0001t0019g0008a0003c0002t0012g0264a0003c0002t0031g0023others(19): Show | 22 | 366 | 0.0601 | 5 | c.132 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 367925 | C | CCAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02602.hp1 HG04184.hp2 |
a0001a0002 | a0001c0004a0001c0008a0002c0001 | a0001c0004t0005a0001c0008t0017a0002c0001t0037 | a0001c0004t0005g0223a0001c0008t0017g0262a0002c0001t0037g0081 | 3 | 366 | 0.0082 | 5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 380495 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0005others(22): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(236): Show | a0001c0003t0001g0302a0001c0003t0002g0111a0001c0003t0002g0124others(297): Show | 302 | 366 | 0.8251 | 5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 419148 | C | CTTCTA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0002a0001c0003t0007a0001c0003t0012others(39): Show | a0001c0003t0002g0180a0001c0003t0007g0222a0001c0003t0012g0284others(43): Show | 47 | 366 | 0.1284 | 5 | c.58+ others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 445635 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0005others(11): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0006others(71): Show | a0001c0003t0003g0197a0001c0003t0003g0352a0001c0003t0004g0056others(77): Show | 81 | 366 | 0.2213 | 5 | c.58+ others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 503828 | C | CGGGGG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(21): Show | a0001c0003t0001g0302a0001c0003t0004g0294a0001c0003t0006g0277others(24): Show | 27 | 366 | 0.0738 | 5 | c.-33 others(16): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 3128 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17569891 | C | CCTTTT | intron_variant | MODIFIER | HG01123.hp2 HG02257.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0011a0001c0001t0006g0100a0001c0001t0006g0126others(2): Show | 8 | 396 | 0.0202 | 5 | c.829 others(22): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17569891 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0154a0001c0001t0002g0119a0001c0001t0005g0005others(67): Show | 88 | 396 | 0.2222 | 5 | c.829 others(22): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
COLGALT1_chr19_17550649_17588157 | 17583435 | C | CGGGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(29): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0013others(7): Show | a0001c0002t0002g0009a0001c0002t0002g0012a0001c0002t0003g0004others(22): Show | 32 | 396 | 0.0808 | 5 | c.*19 others(16): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 279 | chr19 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17584073 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01070.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018a0001c0001t0023others(2): Show | a0001c0001t0006g0006a0001c0001t0006g0011a0001c0001t0006g0032others(11): Show | 25 | 396 | 0.0631 | 5 | c.*26 others(16): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 917 | chr19 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183962154 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01256.hp1 HG01884.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0016a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0001t0016g0209a0001c0002t0002g0118a0001c0004t0001g0212others(18): Show | 22 | 340 | 0.0647 | 5 | c.952 others(22): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183976352 | T | TTATAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(62): Show | a0001c0001t0001g0112a0001c0001t0001g0116a0001c0001t0001g0120others(284): Show | 290 | 340 | 0.8529 | 5 | c.375 others(22): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 184026871 | C | CTATTA | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01884.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0001g0112a0001c0001t0005g0109a0001c0001t0008g0091others(9): Show | 12 | 340 | 0.0353 | 5 | c.263 others(24): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15466653 | T | TCTGTC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0015others(207): Show | 238 | 382 | 0.6230 | 5 | c.718 others(20): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116139381 | A | ATGTCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(239): Show | 245 | 350 | 0.7000 | 5 | c.510 others(22): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCCT | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00673.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0084a0001c0001t0001g0195a0001c0002t0001g0106others(30): Show | 35 | 350 | 0.1000 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(109): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(108): Show | 112 | 350 | 0.3200 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116163423 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02055.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0191a0001c0001t0001g0195others(30): Show | 33 | 350 | 0.0943 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116174154 | T | TGATAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(129): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 132 | 350 | 0.3771 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116177298 | T | TCTCTC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 133 | 350 | 0.3800 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116188639 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0321a0001c0001t0001g0322others(74): Show | 79 | 350 | 0.2257 | 5 | c.510 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116251290 | A | ATTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01256.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(22): Show | 25 | 350 | 0.0714 | 5 | c.511 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 61913816 | A | AAAAAG | intron_variant | MODIFIER | HG02056.hp2 HG02074.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0114others(4): Show | 7 | 286 | 0.0245 | 5 | c.180 others(22): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 61993043 | T | TACCTC | intron_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG01261.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0230others(59): Show | 62 | 286 | 0.2168 | 5 | c.181 others(22): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62027621 | T | TTTATG | intron_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01258.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0030others(46): Show | 49 | 286 | 0.1713 | 5 | c.462 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD6_chr13_75520214_75542841 | 75540344 | C | CACACA | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18945.hp1 NA19011.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(1): Show | 6 | 396 | 0.0152 | 5 | c.-25 others(16): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 2504 | chr13 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32728208 | G | GGCTAT | intron_variant | MODIFIER | NA18946.hp1 NA18950.hp2 NA18959.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0051a0001c0001t0001g0052others(6): Show | 10 | 400 | 0.0250 | 5 | c.85- others(16): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
COMMD8_chr4_47445787_47468702 | 47461758 | A | ACAACT | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0121a0001c0001t0003g0045a0001c0001t0003g0122others(2): Show | 8 | 396 | 0.0202 | 5 | c.67- others(20): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36286395 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01358.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0166a0001c0001t0001g0175others(2): Show | 7 | 448 | 0.0156 | 5 | c.51+ others(20): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18786763 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0130a0001c0001t0001g0160a0002c0002t0002g0025others(3): Show | 7 | 398 | 0.0176 | 5 | c.113 others(22): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
COMT_chr22_19936772_19974975 | 19940244 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(13): Show | a0001c0002t0001g0331a0001c0002t0001g0344a0001c0002t0001g0348others(29): Show | 33 | 426 | 0.0775 | 5 | c.-17 others(16): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1527 | chr22 | TogoVar | ||||||
COMT_chr22_19936772_19974975 | 19944822 | A | AAAAAC | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0002a0001c0002t0003a0001c0004t0027others(1): Show | a0001c0002t0002g0326a0001c0002t0003g0056a0001c0002t0003g0057others(6): Show | 9 | 426 | 0.0211 | 5 | c.-92 others(22): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COMT_chr22_19936772_19974975 | 19950261 | T | TTTTTG | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp1 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0306a0001c0002t0001g0335a0001c0002t0001g0348others(5): Show | 8 | 426 | 0.0188 | 5 | c.-92 others(22): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COP1_chr1_175939831_176212286 | 175949168 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01943.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0139others(5): Show | 8 | 300 | 0.0267 | 5 | c.213 others(24): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176077913 | G | GAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(279): Show | 282 | 300 | 0.9400 | 5 | c.127 others(24): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 11/19 | chr1 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176093838 | T | TCAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01109.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0257a0001c0001t0003g0282others(30): Show | 33 | 300 | 0.1100 | 5 | c.102 others(24): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 9/19 | chr1 | TogoVar | ||||||
COPB2_chr3_139352406_139394647 | 139381915 | A | AAAAAC | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 HG02886.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0074others(2): Show | 14 | 264 | 0.0530 | 5 | c.141 others(22): Show |
COPB2 | ENSG00000184432.11 | transcript | ENST00000333188.10 | protein_coding | 2/21 | chr3 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902752 | G | GAAGGA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169a0001c0002t0001g0206a0001c0002t0001g0207others(18): Show | 21 | 330 | 0.0636 | 5 | c.735 others(20): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPG1_chr3_129244606_129282773 | 129248846 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01255.hp2 others(6): Show |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0012a0001c0006t0002g0028a0001c0006t0002g0075others(2): Show | 9 | 326 | 0.0276 | 5 | c.-86 others(14): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 759 | chr3 | TogoVar | ||||||
COPG1_chr3_129244606_129282773 | 129282295 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG02015.hp2 others(22): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0002t0001g0067a0001c0002t0001g0070a0001c0002t0001g0080others(16): Show | 25 | 326 | 0.0767 | 5 | c.*48 others(16): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 4523 | chr3 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130545170 | T | TATTTC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01106.hp1 others(59): Show |
a0001a0003a0008others(1): Show | a0001c0002a0003c0008a0008c0013others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0006others(59): Show | 62 | 326 | 0.1902 | 5 | c.214 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar |