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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf76_chr2_119297225_119371834 | 119301104 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0099 | 2 | 354 | 0.0057 | 18 | c.*13 others(29): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 1120 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208162621 | G | GCTGAGGT others(11): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 342 | 0.0029 | 18 | c.*31 others(29): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 2725 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208162623 | C | CGAGGTGG others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0016others(314): Show | 338 | 342 | 0.9883 | 18 | c.*31 others(29): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 2723 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208169269 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0036a0001c0001t0001g0064a0001c0001t0001g0065others(14): Show | 17 | 342 | 0.0497 | 18 | c.573 others(35): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf88_chr2_190175863_190208484 | 190192452 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 420 | 0.0024 | 18 | c.-16 others(37): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf92_chr2_97664713_97708066 | 97705958 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0081 | 1 | 310 | 0.0032 | 18 | c.*31 others(29): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 2893 | chr2 | TogoVar | ||||||
C3AR1_chr12_8051844_8071359 | 8052320 | G | GCCATTCT others(11): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0156 | 1 | 424 | 0.0024 | 18 | c.*63 others(29): Show |
C3AR1 | ENSG00000171860.5 | transcript | ENST00000307637.5 | protein_coding | 4523 | chr12 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6697041 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02071.hp1 |
a0001a0002 | a0001c0002a0001c0051a0002c0037 | a0001c0002t0001a0001c0051t0001a0002c0037t0001 | a0001c0002t0001g0080a0001c0051t0001g0234a0002c0037t0001g0153 | 3 | 370 | 0.0081 | 18 | c.279 others(35): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 21/40 | chr19 | TogoVar | ||||||
C3orf18_chr3_50553025_50572747 | 50565843 | C | CCCCCTGC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0030 | 1 | 382 | 0.0026 | 18 | c.-16 others(27): Show |
C3orf18 | ENSG00000088543.15 | transcript | ENST00000357203.8 | protein_coding | 3/6 | 145 | chr3 | TogoVar | |||||
C3orf20_chr3_14670141_14778036 | 14686193 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0110 | 1 | 380 | 0.0026 | 18 | c.625 others(35): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf20_chr3_14670141_14778036 | 14732871 | T | TTATATTA others(11): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0180 | 1 | 380 | 0.0026 | 18 | c.194 others(37): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf33_chr3_155757617_155811278 | 155770962 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 |
a0003a0009 | a0003c0008a0009c0018 | a0003c0008t0002a0009c0018t0002 | a0003c0008t0002g0374a0009c0018t0002g0390 | 2 | 406 | 0.0049 | 18 | c.323 others(35): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155771017 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0364 | 1 | 406 | 0.0025 | 18 | c.323 others(35): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155776759 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0002c0003t0001a0002c0003t0008 | a0001c0002t0005g0048a0002c0003t0001g0184a0002c0003t0001g0265others(2): Show | 5 | 406 | 0.0123 | 18 | c.175 others(33): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155800610 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 406 | 0.0025 | 18 | c.174 others(35): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02135.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0003g0001 | 4 | 320 | 0.0125 | 18 | c.*55 others(29): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112085348 | A | ATGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 HG03654.hp1 HG03942.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0003 | a0001c0001t0002g0101a0002c0002t0002g0052a0002c0002t0003g0006others(3): Show | 9 | 372 | 0.0242 | 18 | c.-10 others(29): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1040 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01975.hp1 HG02015.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0048a0001c0001t0002g0106a0001c0001t0002g0108others(15): Show | 18 | 388 | 0.0464 | 18 | c.*90 others(29): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp1 others(95): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0019a0001c0001t0001g0161a0001c0001t0001g0162others(95): Show | 98 | 388 | 0.2526 | 18 | c.196 others(37): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02523.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 410 | 0.0220 | 18 | c.-18 others(29): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49194292 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 306 | 0.0033 | 18 | c.-25 others(29): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2435 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 370 | 0.0027 | 18 | c.49+ others(31): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 370 | 0.0027 | 18 | c.49+ others(31): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0008a0001c0001t0002g0126a0001c0001t0003g0106others(2): Show | 15 | 370 | 0.0405 | 18 | c.49+ others(31): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18977.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0113a0001c0002t0001g0050 | 3 | 370 | 0.0081 | 18 | c.49+ others(31): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 370 | 0.0027 | 18 | c.49+ others(31): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 2 | 354 | 0.0057 | 18 | c.*57 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0003g0183 | 3 | 354 | 0.0085 | 18 | c.*57 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 354 | 0.0028 | 18 | c.*57 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598078 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 354 | 0.0028 | 18 | c.*70 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4569 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598252 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 354 | 0.0028 | 18 | c.*72 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4743 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129115801 | A | AATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0006 | a0006c0007 | a0006c0007t0021 | a0006c0007t0021g0035 | 2 | 396 | 0.0051 | 18 | c.*40 others(29): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG04228.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0043a0003c0007t0001g0121 | 2 | 264 | 0.0076 | 18 | c.357 others(37): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACATA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02683.hp1 HG02717.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0040a0001c0001t0001g0043a0003c0007t0001g0121others(2): Show | 5 | 264 | 0.0189 | 18 | c.64+ others(35): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670023 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 370 | 0.0027 | 18 | c.187 others(33): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185436712 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02486.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0278others(1): Show | 4 | 358 | 0.0112 | 18 | c.534 others(33): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443320 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 | 1 | 358 | 0.0028 | 18 | c.715 others(35): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0230a0001c0001t0004g0031 | 3 | 358 | 0.0084 | 18 | c.715 others(35): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443921 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 358 | 0.0028 | 18 | c.715 others(35): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02109.hp2 HG02738.hp2 others(3): Show |
a0002a0006a0032others(3): Show | a0002c0002a0006c0007a0032c0034others(3): Show | a0002c0002t0000a0006c0007t0000a0032c0034t0000others(3): Show | a0002c0002t0000g0200a0006c0007t0000g0187a0032c0034t0000g0331others(3): Show | 6 | 346 | 0.0173 | 18 | c.369 others(35): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5995474 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0115 | 1 | 346 | 0.0029 | 18 | c.964 others(34): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003860 | G | GTGATGGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(148): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0084a0002c0002others(38): Show | a0001c0001t0000a0001c0084t0000a0002c0002t0000others(38): Show | a0001c0001t0000g0055a0001c0001t0000g0073a0001c0001t0000g0074others(146): Show | 151 | 346 | 0.4364 | 18 | c.963 others(35): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004844 | A | ATGGTGAT others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0025 | a0025c0023 | a0025c0023t0000 | a0025c0023t0000g0320 | 1 | 346 | 0.0029 | 18 | c.963 others(35): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 392 | 0.0026 | 18 | c.*37 others(35): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99648554 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02717.hp2 others(6): Show |
a0005a0025 | a0005c0005a0025c0044 | a0005c0005t0001a0005c0005t0005a0025c0044t0014 | a0005c0005t0001g0104a0005c0005t0005g0020a0005c0005t0005g0032others(3): Show | 9 | 392 | 0.0230 | 18 | c.*36 others(33): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47338656 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18961.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0084a0001c0001t0002g0093a0001c0001t0004g0100others(1): Show | 4 | 406 | 0.0099 | 18 | c.-15 others(35): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 276 | 0.0036 | 18 | c.256 others(37): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 276 | 0.0036 | 18 | c.256 others(37): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121024324 | A | AGGGGGAG others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | 276 | 0.0073 | 18 | c.100 others(35): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121024324 | A | AGGGGGAG others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03486.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0099a0001c0001t0001g0191a0006c0008t0001g0069others(3): Show | 6 | 276 | 0.0217 | 18 | c.100 others(35): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar |