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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COLGALT1_chr19_17550649_17588157 | 17569891 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0154 a0001c0001t0002g0119 a0001c0001t0005g0005 others(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 | a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0003g0004 others(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 | a0001c0001t0006g0006 a0001c0001t0006g0011 a0001c0001t0006g0032 others(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 | a0001c0001t0016g0209 a0001c0002t0002g0118 a0001c0004t0001g0212 others(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 | a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0120 others(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 | a0001c0001t0001g0112 a0001c0001t0005g0109 a0001c0001t0008g0091 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0084 a0001c0001t0001g0195 a0001c0002t0001g0106 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0077 a0001c0001t0001g0191 a0001c0001t0001g0195 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0195 a0001c0001t0001g0321 a0001c0001t0001g0322 others(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 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(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 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0114 others(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 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 others(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 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0052 others(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 | a0001c0001t0002g0121 a0001c0001t0003g0045 a0001c0001t0003g0122 others(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 | a0001c0001t0001g0017 a0001c0001t0001g0166 a0001c0001t0001g0175 others(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 | a0001c0001t0001g0130 a0001c0001t0001g0161 a0002c0002t0002g0024 others(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 | a0001c0002t0001g0331 a0001c0002t0001g0344 a0001c0002t0001g0348 others(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 | a0001c0002t0002g0326 a0001c0002t0003g0056 a0001c0002t0003g0057 others(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 | a0001c0002t0001g0306 a0001c0002t0001g0335 a0001c0002t0001g0348 others(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 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 others(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 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(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 | a0001c0001t0001g0167 a0001c0001t0001g0257 a0001c0001t0003g0282 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0074 others(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 | a0001c0002t0001g0169 a0001c0002t0001g0206 a0001c0002t0001g0207 others(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 | a0001c0006t0002g0012 a0001c0006t0002g0028 a0001c0006t0002g0075 others(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 | a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0080 others(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 | a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 others(59): Show |
62 | 326 | 0.1902 | 5 | c.214 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130557817 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(51): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(51): Show |
54 | 326 | 0.1656 | 5 | c.112 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 12/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130618100 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG01167.hp1 others(49): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(49): Show |
52 | 326 | 0.1595 | 5 | c.324 others(22): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130671851 | C | CTTTAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(56): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(56): Show |
59 | 326 | 0.1810 | 5 | c.-31 others(16): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 3104 | chr7 | TogoVar | |||||||
COPS2_chr15_49117727_49160599 | 49119818 | G | GTTTGT | downstream_gene_variant | MODIFIER | HG03041.hp2 NA18980.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0002 a0001c0001t0018g0191 |
5 | 398 | 0.0126 | 5 | c.*81 others(16): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 2908 | chr15 | TogoVar | |||||||
COPS2_chr15_49117727_49160599 | 49148294 | G | GTAATA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0038 | a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0008g0010 others(5): Show |
13 | 398 | 0.0327 | 5 | c.55- others(20): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
COPS3_chr17_17241616_17286246 | 17269426 | A | AAAAAC | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show |
10 | 352 | 0.0284 | 5 | c.348 others(22): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
COPS4_chr4_83030183_83080818 | 83054342 | A | AAAAAC | intron_variant | MODIFIER | HG02886.hp1 HG03225.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 |
3 | 372 | 0.0081 | 5 | c.411 others(22): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
COPS7A_chr12_6719046_6736865 | 6733399 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01981.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0080 a0001c0001t0002g0003 a0001c0002t0003g0016 others(5): Show |
10 | 474 | 0.0211 | 5 | c.*23 others(16): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1535 | chr12 | TogoVar | |||||||
COPS7A_chr12_6719046_6736865 | 6736830 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0016 a0001c0002t0003g0026 a0001c0002t0003g0044 others(2): Show |
7 | 474 | 0.0148 | 5 | c.*57 others(16): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 4966 | chr12 | TogoVar | |||||||
COPS7B_chr2_231781445_231814253 | 231808842 | T | TGTGTG | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG03017.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0042a0001c0001t0046 | a0001c0001t0034g0029 a0001c0001t0042g0150 a0001c0001t0046g0007 |
3 | 348 | 0.0086 | 5 | c.*11 others(16): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 7/7 | 1198 | chr2 | TogoVar | ||||||
COPS8_chr2_237080889_237105474 | 237087092 | G | GTTGTT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01168.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0006g0024 others(2): Show |
13 | 348 | 0.0374 | 5 | c.79- others(16): Show |
COPS8 | ENSG00000198612.11 | transcript | ENST00000354371.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COPS9_chr2_240125828_240141305 | 240136812 | A | ACGCGC | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 |
7 | 442 | 0.0158 | 5 | c.-52 others(14): Show |
COPS9 | ENSG00000172428.11 | transcript | ENST00000607357.2 | protein_coding | 508 | chr2 | TogoVar | |||||||
COPZ1_chr12_54320131_54356846 | 54323724 | T | TTTCTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(278): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(260): Show |
281 | 368 | 0.7636 | 5 | c.-14 others(16): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1406 | chr12 | TogoVar | |||||||
COQ10B_chr2_197448552_197480310 | 197472428 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(120): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(96): Show |
123 | 390 | 0.3154 | 5 | c.550 others(22): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197473402 | C | CAAAAA | intron_variant | MODIFIER | HG02015.hp1 NA18941.hp2 NA18970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003a0001c0004t0010 | a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show |
6 | 390 | 0.0154 | 5 | c.550 others(20): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99396981 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(4): Show | a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0002g0003 others(129): Show |
162 | 434 | 0.3733 | 5 | c.-28 others(16): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 2787 | chr6 | TogoVar |