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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A6_chr3_130512177_130682042 | 130542898 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(10): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0071others(8): Show | a0001c0001t0001a0002c0002t0003a0003c0071t0004others(10): Show | a0001c0001t0001g0142a0002c0002t0003g0134a0003c0071t0004g0200others(10): Show | 13 | 264 | 0.0492 | -5 | c.-31 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130555863 | CAACTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
a0007a0010a0015others(3): Show | a0007c0017a0007c0032a0007c0040others(11): Show | a0007c0017t0006a0007c0032t0003a0007c0040t0004others(13): Show | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | 264 | 0.0758 | -5 | c.-31 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130561634 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(98): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0056a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0011a0001c0001t0001g0121a0001c0001t0001g0135others(98): Show | 101 | 264 | 0.3826 | -5 | c.64+ others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590292 | TATATA | T | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 NA18522.hp1 |
a0004a0020 | a0004c0004a0020c0025 | a0004c0004t0002a0020c0025t0002 | a0004c0004t0002g0026a0020c0025t0002g0027a0020c0025t0002g0028 | 3 | 264 | 0.0114 | -5 | c.421 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130634242 | TAAAAA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG02129.hp2 others(11): Show |
a0001a0004a0011others(5): Show | a0001c0056a0004c0004a0011c0008others(5): Show | a0001c0056t0002a0004c0004t0001a0004c0004t0002others(10): Show | a0001c0056t0002g0059a0004c0004t0001g0206a0004c0004t0002g0039others(11): Show | 14 | 264 | 0.0530 | -5 | c.499 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636756 | TCCTCC | T | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp2 NA19086.hp1 |
a0017a0036 | a0017c0019a0036c0068 | a0017c0019t0003a0017c0019t0009a0036c0068t0002 | a0017c0019t0003g0127a0017c0019t0009g0258a0036c0068t0002g0079 | 3 | 264 | 0.0114 | -5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636918 | CCCCCT | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(46): Show |
a0002a0003a0004others(16): Show | a0002c0002a0003c0010a0003c0013others(19): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(46): Show | 49 | 264 | 0.1856 | -5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130669825 | TAAGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0051others(25): Show | a0001c0001t0007a0002c0002t0003a0002c0002t0005others(35): Show | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | 264 | 0.2386 | -5 | c.659 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A1_chr6_70211126_70308084 | 70257048 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01069.hp2 others(21): Show |
a0003a0005a0008others(1): Show | a0003c0003a0005c0005a0008c0015others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0007others(5): Show | a0003c0003t0001g0029a0003c0003t0001g0031a0003c0003t0001g0041others(19): Show | 24 | 362 | 0.0663 | -5 | c.145 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 20/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70279648 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01433.hp2 HG02074.hp1 others(7): Show |
a0002a0003a0008 | a0002c0004a0002c0016a0003c0003others(1): Show | a0002c0004t0003a0002c0004t0004a0002c0016t0004others(3): Show | a0002c0004t0003g0286a0002c0004t0004g0212a0002c0004t0004g0254others(5): Show | 10 | 362 | 0.0276 | -5 | c.975 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 10/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321124 | TATATA | T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02071.hp1 HG02071.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0001a0004c0003t0001 | a0002c0002t0001g0030a0004c0003t0001g0008 | 4 | 438 | 0.0091 | -5 | c.-39 others(16): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3839 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321126 | TATATA | T | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03579.hp1 others(10): Show |
a0002a0005a0018 | a0002c0002a0005c0004a0018c0023 | a0002c0002t0001a0005c0004t0002a0018c0023t0002 | a0002c0002t0001g0098a0005c0004t0002g0012a0005c0004t0002g0038others(5): Show | 13 | 438 | 0.0297 | -5 | c.-39 others(16): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3841 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62823036 | TGAAAA | T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02109.hp2 others(9): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0010a0003c0025others(4): Show | a0001c0001t0001a0001c0010t0002a0001c0010t0004others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0231others(9): Show | 12 | 412 | 0.0291 | -5 | c.519 others(20): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL9A3_chr20_62812050_62846159 | 62835841 | ATTTAT | A | intron_variant | MODIFIER | HG01255.hp2 HG03453.hp2 NA19030.hp1 |
a0010a0014 | a0010c0028a0014c0031 | a0010c0028t0002a0014c0031t0002 | a0010c0028t0002g0294a0010c0028t0002g0298a0014c0031t0002g0103 | 3 | 412 | 0.0073 | -5 | c.136 others(20): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 26/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069630 | ATATAT | A | intron_variant | MODIFIER | HG02735.hp1 HG02738.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0155a0001c0001t0006g0156a0001c0001t0006g0157 | 3 | 388 | 0.0077 | -5 | c.148 others(22): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3590858 | TGACCC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(133): Show | 139 | 378 | 0.3677 | -5 | c.-43 others(16): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4253 | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3609347 | CTTTGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0060a0001c0001t0001g0137others(28): Show | 31 | 378 | 0.0820 | -5 | c.131 others(22): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3609352 | ATTTTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp1 HG01891.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0325a0002c0002t0001g0001a0002c0002t0001g0010others(11): Show | 17 | 378 | 0.0450 | -5 | c.131 others(22): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319321 | TAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00642.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(27): Show | a0001c0003t0002g0111a0001c0003t0002g0124a0001c0003t0002g0180others(44): Show | 48 | 366 | 0.1312 | -5 | c.*71 others(14): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 719 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 385316 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(36): Show | a0001c0003t0001g0302a0001c0003t0002g0124a0001c0003t0004g0071others(39): Show | 42 | 366 | 0.1148 | -5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 406515 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0002a0001c0003t0042a0001c0003t0061others(40): Show | a0001c0003t0002g0254a0001c0003t0042g0130a0001c0003t0042g0343others(44): Show | 48 | 366 | 0.1312 | -5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 412489 | AAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(65): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(58): Show | a0001c0003t0001g0302a0001c0003t0002g0124a0001c0003t0004g0056others(65): Show | 68 | 366 | 0.1858 | -5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 419148 | CTTCTA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(90): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0005others(79): Show | a0001c0003t0002g0254a0001c0003t0003g0197a0001c0003t0005g0044others(89): Show | 93 | 366 | 0.2541 | -5 | c.58+ others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17554798 | AATAAT | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0043 | a0001c0001t0008g0020a0001c0001t0008g0037a0001c0001t0008g0216others(3): Show | 8 | 396 | 0.0202 | -5 | c.-91 others(14): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 850 | chr19 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183994026 | CTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG01099.hp1 others(78): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0112a0001c0001t0001g0130a0001c0001t0001g0141others(76): Show | 81 | 340 | 0.2382 | -5 | c.264 others(24): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183997204 | CATAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG02723.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0211a0001c0001t0001g0213a0001c0001t0001g0328others(4): Show | 7 | 340 | 0.0206 | -5 | c.264 others(24): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 184038531 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0022others(6): Show | a0001c0001t0001g0126a0001c0001t0020g0007a0001c0001t0022g0005others(6): Show | 9 | 340 | 0.0265 | -5 | c.-11 others(16): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 804 | chr1 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15472850 | CTTCTT | C | intron_variant | MODIFIER | HG03041.hp1 NA18960.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0104a0001c0001t0001g0168a0001c0001t0010g0259 | 3 | 382 | 0.0079 | -5 | c.636 others(22): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116129705 | ATTAGT | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(32): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0036others(30): Show | 35 | 350 | 0.1000 | -5 | c.400 others(22): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116167126 | TTAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0324a0001c0001t0001g0325a0001c0001t0001g0326others(10): Show | 13 | 350 | 0.0371 | -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 | 116173823 | TTTTTG | T | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02165.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0069a0001c0001t0001g0191a0001c0001t0001g0321others(15): Show | 18 | 350 | 0.0514 | -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 | 116220055 | TCTAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00738.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0297a0001c0001t0001g0298others(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 | |||||
COMMD10_chr5_116080025_116298287 | 116252004 | TGGCAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(342): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(339): Show | 345 | 350 | 0.9857 | -5 | c.511 others(24): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116270967 | TAAATA | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00738.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0297a0001c0001t0001g0298others(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 | |||||
COMMD10_chr5_116080025_116298287 | 116288872 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0082a0001c0001t0001g0297others(7): Show | 10 | 350 | 0.0286 | -5 | c.511 others(22): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116296950 | ACTTAT | A | downstream_gene_variant | MODIFIER | NA18939.hp1 NA18961.hp1 NA18962.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0001g0280others(4): Show | 7 | 350 | 0.0200 | -5 | c.*44 others(16): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 3664 | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 61906751 | AAAAAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0282others(2): Show | 5 | 286 | 0.0175 | -5 | c.180 others(20): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 61949656 | TTAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01167.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(65): Show | 68 | 286 | 0.2378 | -5 | c.180 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62027621 | TTTATG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(134): Show | 137 | 286 | 0.4790 | -5 | c.462 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62027654 | ATGTTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0001t0001g0281others(10): Show | 13 | 286 | 0.0455 | -5 | c.462 others(24): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD2_chr3_149733472_149757489 | 149742671 | TAAAGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 | 3 | 424 | 0.0071 | -5 | c.403 others(20): Show |
COMMD2 | ENSG00000114744.9 | transcript | ENST00000473414.6 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
COMMD2_chr3_149733472_149757489 | 149742995 | AAAAAG | A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0075a0001c0002t0001g0080 | 11 | 424 | 0.0259 | -5 | c.403 others(22): Show |
COMMD2 | ENSG00000114744.9 | transcript | ENST00000473414.6 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
COMMD3_chr10_22311388_22325306 | 22312421 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02257.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0002a0002c0002t0001g0006a0002c0002t0001g0013others(4): Show | 28 | 308 | 0.0909 | -5 | c.-39 others(16): Show |
COMMD3 | ENSG00000148444.16 | transcript | ENST00000376836.8 | protein_coding | 3966 | chr10 | TogoVar | ||||||
COMMD3_chr10_22311388_22325306 | 22319103 | TTAATC | T | intron_variant | MODIFIER | NA18947.hp2 NA18966.hp2 NA18977.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0020 | 7 | 308 | 0.0227 | -5 | c.528 others(18): Show |
COMMD3 | ENSG00000148444.16 | transcript | ENST00000376836.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COMMD6_chr13_75520214_75542841 | 75542290 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0040others(3): Show | 15 | 396 | 0.0379 | -5 | c.-44 others(16): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 4450 | chr13 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32717321 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(104): Show | 119 | 400 | 0.2975 | -5 | c.242 others(24): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32734924 | AAAAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0277a0001c0001t0001g0278others(1): Show | 4 | 400 | 0.0100 | -5 | c.85- others(20): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18786763 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01070.hp1 others(57): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(30): Show | 60 | 398 | 0.1508 | -5 | c.113 others(22): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
COMT_chr22_19936772_19974975 | 19948954 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG02074.hp2 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0004t0004others(2): Show | a0001c0002t0001g0025a0001c0002t0003g0320a0001c0002t0003g0321others(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 | |||||
COP1_chr1_175939831_176212286 | 175998063 | TAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01106.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0001t0001g0073others(7): Show | 10 | 300 | 0.0333 | -5 | c.173 others(24): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar |