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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COLEC12_chr18_311737_505701 | 497383 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0001 | a0002c0001t0222 | a0002c0001t0222g0346 | 1 | 366 | 0.0027 | 18 | c.7+3 others(31): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 502305 | G | GCTTTCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01257.hp1 HG01258.hp2 others(1): Show |
a0002a0003a0004 | a0002c0001a0003c0002a0004c0006 | a0002c0001t0222a0003c0002t0162a0004c0006t0107others(1): Show | a0002c0001t0222g0346 a0003c0002t0162g0349 a0004c0006t0107g0348 others(1): Show |
4 | 366 | 0.0109 | 18 | c.-17 others(29): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1605 | chr18 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183977804 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0225 others(1): Show |
4 | 340 | 0.0118 | 18 | c.374 others(33): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183977812 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02040.hp2 HG02056.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0004g0076 others(18): Show |
21 | 340 | 0.0618 | 18 | c.374 others(33): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184037754 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG03491.hp1 |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0005a0011c0010t0033 | a0001c0001t0005g0143 a0011c0010t0033g0101 |
2 | 340 | 0.0059 | 18 | c.-39 others(27): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 27 | chr1 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116140231 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(1): Show |
4 | 350 | 0.0114 | 18 | c.510 others(35): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116212496 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00738.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0001 | a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0082 others(42): Show |
45 | 350 | 0.1286 | 18 | c.510 others(37): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 350 | 0.0029 | 18 | c.*31 others(29): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 62063868 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01257.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(6): Show |
9 | 286 | 0.0315 | 18 | c.462 others(37): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62095807 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 286 | 0.0035 | 18 | c.463 others(37): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32705376 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 400 | 0.0025 | 18 | c.337 others(33): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 5/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32714824 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01433.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0108 others(17): Show |
20 | 400 | 0.0500 | 18 | c.242 others(35): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32737379 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(18): Show |
27 | 400 | 0.0675 | 18 | c.84+ others(33): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMMD8_chr4_47445787_47468702 | 47447372 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show |
14 | 396 | 0.0354 | 18 | c.*42 others(29): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 3414 | chr4 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36270137 | T | TAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show |
19 | 448 | 0.0424 | 18 | c.*44 others(29): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2154 | chr11 | TogoVar | |||||||
COMP_chr19_18777773_18796305 | 18787864 | C | CTTTTTCT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01099.hp1 others(35): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 others(21): Show |
38 | 398 | 0.0955 | 18 | c.976 others(33): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75232740 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 18 | c.*13 others(29): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 900 | chr10 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19951240 | T | TCCTCCCC others(11): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 426 | 0.0024 | 18 | c.-92 others(35): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175949168 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 others(6): Show |
9 | 300 | 0.0300 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175951437 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18950.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0123 |
3 | 300 | 0.0100 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175955766 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 a0001c0001t0004g0272 |
2 | 300 | 0.0067 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175955766 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01175.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 others(22): Show |
25 | 300 | 0.0833 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175955767 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 300 | 0.0033 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175977035 | T | TTGTGAGT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00642.hp2 others(84): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(84): Show |
87 | 300 | 0.2900 | 18 | c.213 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176028696 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00738.hp2 others(30): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0072 others(30): Show |
33 | 300 | 0.1100 | 18 | c.161 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176173986 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 300 | 0.0033 | 18 | c.565 others(35): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14454637 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp2 HG01934.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0151 a0001c0001t0001g0179 others(8): Show |
11 | 386 | 0.0285 | 18 | c.*31 others(29): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 2874 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14470944 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 386 | 0.0026 | 18 | c.173 others(37): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14477389 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01071.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0171 others(33): Show |
37 | 386 | 0.0959 | 18 | c.135 others(35): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513308 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 326 | 0.0031 | 18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513323 | A | ATATGTGT others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0109 | 1 | 326 | 0.0031 | 18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513323 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18939.hp1 NA18941.hp1 others(8): Show |
a0001a0009 | a0001c0002a0009c0014 | a0001c0002t0001a0001c0002t0004a0009c0014t0001 | a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 others(8): Show |
11 | 326 | 0.0337 | 18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513341 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 326 | 0.0031 | 18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513341 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 326 | 0.0031 | 18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPS7A_chr12_6719046_6736865 | 6722552 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 474 | 0.0042 | 18 | c.-16 others(29): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1493 | chr12 | TogoVar | |||||||
COPS7A_chr12_6719046_6736865 | 6733399 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0057 | 1 | 474 | 0.0021 | 18 | c.*23 others(29): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1535 | chr12 | TogoVar | |||||||
COPZ1_chr12_54320131_54356846 | 54326123 | G | GAATAATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp2 NA18991.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 others(4): Show |
7 | 368 | 0.0190 | 18 | c.18+ others(31): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326124 | A | AATAATTA others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0159 | 1 | 368 | 0.0027 | 18 | c.18+ others(31): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326124 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00735.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0002g0002 others(21): Show |
29 | 368 | 0.0788 | 18 | c.18+ others(31): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COPZ2_chr17_48021167_48042797 | 48026119 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 396 | 0.0025 | 18 | c.*30 others(27): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 47 | chr17 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120526698 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02559.hp1 HG03516.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0275 a0002c0003t0001g0320 a0002c0003t0001g0325 |
3 | 388 | 0.0077 | 18 | c.202 others(35): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19064341 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 a0002c0003t0002g0059 a0002c0003t0002g0067 |
4 | 372 | 0.0108 | 18 | c.-33 others(29): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3272 | chr16 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19064343 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0003a0002c0003t0002 | a0001c0001t0001g0116 a0002c0002t0003g0030 a0002c0003t0002g0006 others(11): Show |
19 | 372 | 0.0511 | 18 | c.-33 others(29): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3270 | chr16 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19064345 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 HG04184.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0002 | a0002c0002t0003g0074 a0002c0003t0002g0010 |
2 | 372 | 0.0054 | 18 | c.-33 others(29): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3268 | chr16 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19064347 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0165 | 1 | 372 | 0.0027 | 18 | c.-33 others(29): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3266 | chr16 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02055.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0008 | a0001c0001t0001g0161 a0002c0002t0003g0011 a0002c0002t0003g0014 others(5): Show |
17 | 372 | 0.0457 | 18 | c.576 others(33): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19077603 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0074 | 1 | 372 | 0.0027 | 18 | c.576 others(33): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40697851 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 | 1 | 410 | 0.0024 | 18 | c.114 others(37): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40697851 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0166 | 1 | 410 | 0.0024 | 18 | c.114 others(37): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18955.hp1 NA18980.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0173 a0001c0002t0001g0326 a0001c0003t0001g0070 |
3 | 410 | 0.0073 | 18 | c.114 others(37): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar |