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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01256.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0130 a0001c0001t0001g0132 others(1): Show |
5 | 372 | 0.0134 | 14 | c.576 others(29): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226936611 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 HG03654.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0068 a0001c0003t0003g0071 |
2 | 412 | 0.0049 | 14 | c.-37 others(25): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 3682 | chr1 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226971544 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02027.hp1 HG02165.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 others(2): Show |
5 | 412 | 0.0121 | 14 | c.655 others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40695326 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01256.hp2 NA18747.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0317 a0001c0003t0001g0214 |
2 | 410 | 0.0049 | 14 | c.120 others(31): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40697851 | T | TATATAGA others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18983.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 a0001c0003t0001g0226 |
2 | 410 | 0.0049 | 14 | c.114 others(33): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 410 | 0.0024 | 14 | c.114 others(33): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(34): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0218 others(26): Show |
37 | 410 | 0.0902 | 14 | c.114 others(33): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623069 | C | CCTCTCTC others(7): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0204 | 1 | 264 | 0.0038 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTAT others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0037 a0002c0003t0004g0186 |
2 | 264 | 0.0076 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02258.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0036a0005c0013others(2): Show | a0001c0001t0003a0002c0036t0008a0005c0013t0001others(2): Show | a0001c0001t0003g0030 a0002c0036t0008g0178 a0005c0013t0001g0229 others(4): Show |
7 | 264 | 0.0265 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02071.hp1 HG02109.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0003g0137 a0001c0002t0001g0134 a0001c0002t0001g0176 others(3): Show |
6 | 264 | 0.0227 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19002.hp2 NA19063.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0180 a0002c0003t0003g0212 a0002c0003t0003g0232 |
3 | 264 | 0.0114 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 264 | 0.0038 | 14 | c.254 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47757878 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03209.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0002 | a0001c0002t0001g0160 a0001c0006t0002g0158 a0001c0006t0002g0161 |
3 | 264 | 0.0114 | 14 | c.617 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47757905 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0099 | 1 | 264 | 0.0038 | 14 | c.617 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47805148 | A | AAAAATAA others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0221 a0002c0008t0001g0222 |
2 | 264 | 0.0076 | 14 | c.208 others(31): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
CORO1A_chr16_30178602_30194076 | 30189260 | A | AGGAGGCT others(7): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 342 | 0.0029 | 14 | c.*29 others(23): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 185 | chr16 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119794 | G | GTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 342 | 0.0029 | 14 | c.*49 others(25): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1180 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02486.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0176 a0001c0001t0003g0122 a0001c0001t0003g0132 others(2): Show |
5 | 342 | 0.0146 | 14 | c.*49 others(25): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98154327 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0272 | 1 | 342 | 0.0029 | 14 | c.201 others(31): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98154352 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18612.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0089 a0001c0001t0001g0197 a0001c0001t0010g0188 |
3 | 342 | 0.0088 | 14 | c.201 others(31): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98163732 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0303 | 1 | 342 | 0.0029 | 14 | c.1-6 others(27): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68633514 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02083.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0093 a0001c0001t0002g0022 a0001c0001t0003g0143 others(10): Show |
13 | 256 | 0.0508 | 14 | c.16- others(31): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68672159 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0039 others(87): Show |
90 | 256 | 0.3516 | 14 | c.217 others(33): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
COTL1_chr16_84560596_84623078 | 84615853 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0233 a0001c0001t0004g0394 |
2 | 440 | 0.0046 | 14 | c.160 others(31): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02258.hp1 HG02572.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0156 others(9): Show |
13 | 376 | 0.0346 | 14 | c.204 others(31): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119670752 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0057 |
3 | 420 | 0.0071 | 14 | c.*5- others(29): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119677075 | G | GGGCAGAG others(7): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 420 | 0.0024 | 14 | c.107 others(29): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18964.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0010t0028 | a0001c0002t0002g0224 a0001c0010t0028g0086 |
2 | 384 | 0.0052 | 14 | c.434 others(29): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0155 a0001c0001t0003g0085 others(7): Show |
22 | 384 | 0.0573 | 14 | c.434 others(29): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0026a0001c0002t0002others(1): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0148 others(12): Show |
29 | 384 | 0.0755 | 14 | c.434 others(29): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18939.hp2 NA18963.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0012 | a0001c0002t0002g0053 a0001c0005t0012g0181 |
3 | 384 | 0.0078 | 14 | c.434 others(29): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 300 | 0.0033 | 14 | c.-40 others(25): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | |||||||
COX6A1_chr12_120433113_120445730 | 120437394 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 426 | 0.0024 | 14 | c.-73 others(23): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 718 | chr12 | TogoVar | |||||||
COX6A2_chr16_31422731_31433360 | 31426609 | T | TGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 412 | 0.0024 | 14 | c.*11 others(25): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 1121 | chr16 | TogoVar | |||||||
COX6A2_chr16_31422731_31433360 | 31427909 | C | CCGCGCCC others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(35): Show |
272 | 412 | 0.6602 | 14 | c.211 others(27): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
COX7A2L_chr2_42344338_42366217 | 42364250 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0006 |
2 | 406 | 0.0049 | 14 | c.-31 others(25): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 3034 | chr2 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46747298 | T | TTTTATTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00639.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0097 a0001c0001t0001g0099 others(55): Show |
60 | 300 | 0.2000 | 14 | c.-49 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46750195 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02132.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0001g0296 a0001c0001t0002g0040 others(2): Show |
5 | 300 | 0.0167 | 14 | c.-49 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46754716 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 300 | 0.0033 | 14 | c.-49 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46754718 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0129 a0001c0001t0001g0154 others(31): Show |
35 | 300 | 0.1167 | 14 | c.-49 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46754722 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 300 | 0.0033 | 14 | c.-49 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46820846 | T | TAGATAGA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 300 | 0.0033 | 14 | c.-50 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46841335 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02615.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0073 a0001c0001t0003g0259 a0001c0001t0003g0260 others(2): Show |
5 | 300 | 0.0167 | 14 | c.-50 others(31): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46852563 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237 a0001c0001t0002g0047 |
2 | 300 | 0.0067 | 14 | c.-10 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46907848 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 300 | 0.0033 | 14 | c.-10 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
COX8A_chr11_63969620_63981543 | 63976842 | G | GTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG02630.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
6 | 336 | 0.0179 | 14 | c.*52 others(23): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 300 | chr11 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130392347 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 434 | 0.0023 | 14 | c.*43 others(25): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4240 | chr7 | TogoVar | |||||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 400 | 0.0025 | 14 | c.*28 others(25): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | |||||||
CPA4_chr7_130288161_130329180 | 130308850 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0186 | 1 | 402 | 0.0025 | 14 | c.793 others(29): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |