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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C3orf52_chr3_112081389_112123210 | 112081437 | C | CAATAAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01106.hp2 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0044a0001c0001t0001g0209a0001c0001t0001g0210others(14): Show | 20 | 372 | 0.0538 | 8 | c.-49 others(19): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4951 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112085348 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(85): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(47): Show | 88 | 372 | 0.2366 | 8 | c.-10 others(19): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1040 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112088661 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02895.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0002g0107others(4): Show | 8 | 372 | 0.0215 | 8 | c.138 others(25): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf62_chr3_49263596_49282232 | 49267670 | C | CATTTATT others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0022others(4): Show | 9 | 326 | 0.0276 | 8 | c.*35 others(19): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 925 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02004.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0049a0001c0001t0050a0001c0001t0051others(6): Show | a0001c0001t0049g0150a0001c0001t0050g0151a0001c0001t0051g0147others(7): Show | 10 | 388 | 0.0258 | 8 | c.*90 others(19): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185113285 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(306): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(109): Show | a0001c0001t0001g0019a0001c0001t0001g0161a0001c0001t0001g0162others(306): Show | 309 | 388 | 0.7964 | 8 | c.197 others(27): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(1): Show | 20 | 410 | 0.0488 | 8 | c.-18 others(19): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160230226 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0014g0000 | 7 | 410 | 0.0171 | 8 | c.*38 others(19): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 2014 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109136325 | T | TTGTCATT others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052a0001c0001t0002g0115 | 3 | 370 | 0.0081 | 8 | c.-42 others(17): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 393 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137070 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0026others(15): Show | 36 | 370 | 0.0973 | 8 | c.49+ others(21): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137635 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 NA18993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0149a0001c0001t0005g0163a0001c0002t0001g0071 | 3 | 370 | 0.0081 | 8 | c.49+ others(21): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0013 | 12 | 370 | 0.0324 | 8 | c.49+ others(21): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4A_chr6_31977057_32007681 | 32006404 | G | GGAGACTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02056.hp2 HG02615.hp1 others(8): Show |
a0001a0005a0010others(2): Show | a0001c0002a0001c0003a0005c0019others(3): Show | a0001c0002t0001a0001c0003t0001a0005c0019t0001others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0057a0001c0003t0001g0004others(4): Show | 11 | 322 | 0.0342 | 8 | c.*38 others(19): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 3724 | chr6 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207118213 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(76): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(68): Show | 79 | 342 | 0.2310 | 8 | c.428 others(25): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99506644 | T | TTCTGTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG03471.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0249a0002c0004t0001g0257a0002c0004t0001g0264others(1): Show | 4 | 386 | 0.0104 | 8 | c.-47 others(19): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4376 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506648 | G | GTCTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 HG03486.hp1 HG04228.hp2 others(5): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0001 | a0002c0003t0001g0031a0002c0003t0001g0290a0002c0003t0001g0293others(5): Show | 8 | 386 | 0.0207 | 8 | c.-47 others(19): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4372 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTGTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG03491.hp1 others(6): Show |
a0002a0004 | a0002c0004a0004c0005 | a0002c0004t0001a0004c0005t0001 | a0002c0004t0001g0255a0002c0004t0001g0256a0002c0004t0001g0258others(5): Show | 9 | 386 | 0.0233 | 8 | c.-47 others(19): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01106.hp2 others(45): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(37): Show | 48 | 386 | 0.1244 | 8 | c.-47 others(19): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37481464 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01168.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0296a0001c0001t0003g0090others(5): Show | 8 | 354 | 0.0226 | 8 | c.-73 others(27): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37538067 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0031a0002c0002t0035 | a0001c0001t0030g0331a0001c0001t0030g0336a0001c0001t0031g0340others(1): Show | 4 | 354 | 0.0113 | 8 | c.-72 others(27): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37556264 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0110a0001c0001t0003g0084a0001c0001t0005g0028others(8): Show | 11 | 354 | 0.0311 | 8 | c.-72 others(25): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 HG02897.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0018 | a0001c0001t0001g0048a0001c0001t0001g0110a0001c0001t0001g0133others(5): Show | 8 | 354 | 0.0226 | 8 | c.*57 others(19): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598078 | A | AATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(80): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0024others(80): Show | 83 | 354 | 0.2345 | 8 | c.*70 others(19): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4569 | chr4 | TogoVar | ||||||
C4orf36_chr4_86871205_86897422 | 86890179 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(122): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0012others(50): Show | 125 | 386 | 0.3238 | 8 | c.65+ others(23): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
C4orf36_chr4_86871205_86897422 | 86890207 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01081.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0005a0001c0001t0001g0067a0001c0001t0001g0068others(6): Show | 22 | 386 | 0.0570 | 8 | c.65+ others(23): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
C4orf36_chr4_86871205_86897422 | 86895726 | T | TCTCTCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01081.hp1 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0046a0005c0005t0005g0047a0005c0005t0005g0177others(4): Show | 9 | 386 | 0.0233 | 8 | c.-36 others(19): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 3305 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158911347 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0025others(16): Show | 20 | 264 | 0.0758 | 8 | c.546 others(25): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158916619 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0088a0001c0002t0001g0168a0001c0002t0001g0175 | 3 | 264 | 0.0114 | 8 | c.357 others(25): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01361.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0033others(29): Show | 33 | 264 | 0.1250 | 8 | c.357 others(27): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158930214 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(1): Show | 4 | 264 | 0.0152 | 8 | c.357 others(27): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158943858 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01123.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0079a0001c0001t0001g0125others(15): Show | 18 | 264 | 0.0682 | 8 | c.356 others(27): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(34): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0204others(33): Show | 37 | 264 | 0.1402 | 8 | c.64+ others(25): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03654.hp1 HG03834.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0268a0001c0001t0001g0318a0001c0001t0002g0036others(5): Show | 8 | 358 | 0.0224 | 8 | c.715 others(25): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf48_chr4_2036995_2048964 | 2038237 | G | GTGTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02622.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 3 | 392 | 0.0077 | 8 | c.-38 others(19): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 3757 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00741.hp1 others(39): Show |
a0001a0005a0007others(11): Show | a0001c0001a0005c0005a0007c0008others(11): Show | a0001c0001t0000a0005c0005t0000a0007c0008t0000others(11): Show | a0001c0001t0000g0073a0001c0001t0000g0074a0001c0001t0000g0079others(38): Show | 42 | 346 | 0.1214 | 8 | c.369 others(25): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5995474 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01106.hp1 others(32): Show |
a0001a0002a0005others(18): Show | a0001c0001a0002c0002a0005c0005others(18): Show | a0001c0001t0000a0002c0002t0000a0005c0005t0000others(18): Show | a0001c0001t0000g0079a0001c0001t0000g0086a0001c0001t0000g0106others(32): Show | 35 | 346 | 0.1012 | 8 | c.964 others(24): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02622.hp1 others(1): Show |
a0033a0074a0105 | a0033c0035a0074c0083a0105c0117 | a0033c0035t0000a0074c0083t0000a0105c0117t0000 | a0033c0035t0000g0228a0033c0035t0000g0236a0074c0083t0000g0237others(1): Show | 4 | 346 | 0.0116 | 8 | c.963 others(25): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004411 | T | TGATGGTA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(106): Show |
a0001a0002a0004others(29): Show | a0001c0001a0001c0084a0002c0002others(31): Show | a0001c0001t0000a0001c0084t0000a0002c0002t0000others(31): Show | a0001c0001t0000g0055a0001c0001t0000g0073a0001c0001t0000g0074others(105): Show | 109 | 346 | 0.3150 | 8 | c.963 others(25): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643739 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02257.hp2 HG02273.hp1 others(3): Show |
a0001a0002a0011 | a0001c0001a0001c0037a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0042a0001c0037t0001others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0189a0001c0001t0042g0135others(3): Show | 6 | 392 | 0.0153 | 8 | c.*37 others(25): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02523.hp2 HG02559.hp2 others(5): Show |
a0001a0028 | a0001c0001a0028c0041 | a0001c0001t0001a0001c0001t0018a0028c0041t0045 | a0001c0001t0001g0113a0001c0001t0001g0132a0001c0001t0001g0160others(5): Show | 8 | 392 | 0.0204 | 8 | c.*37 others(25): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0009others(3): Show | a0001c0001t0001g0126a0001c0001t0008g0017a0002c0002t0009g0047others(4): Show | 13 | 392 | 0.0332 | 8 | c.-30 others(19): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47335771 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0045a0001c0001t0001g0216a0001c0001t0001g0242others(16): Show | 19 | 406 | 0.0468 | 8 | c.-16 others(25): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5AR2_chr19_47327175_47352329 | 47347324 | A | ATTATTTA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG01993.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0011others(1): Show | a0001c0001t0024a0001c0001t0045a0001c0001t0046others(5): Show | a0001c0001t0024g0039a0001c0001t0024g0207a0001c0001t0024g0277others(7): Show | 10 | 406 | 0.0246 | 8 | c.*54 others(19): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 2/2 | 5492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
C5_chr9_120947335_121055275 | 121008927 | C | CACAAACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(132): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0018a0002c0002others(11): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(13): Show | a0001c0001t0001g0068a0001c0018t0001g0244a0001c0018t0001g0248others(128): Show | 135 | 276 | 0.4891 | 8 | c.225 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 17/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018578 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG01255.hp2 others(2): Show |
a0001a0004a0019 | a0001c0001a0001c0018a0004c0005others(1): Show | a0001c0001t0001a0001c0018t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0243a0001c0001t0001g0246a0001c0018t0001g0244others(2): Show | 5 | 276 | 0.0181 | 8 | c.150 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018740 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(20): Show |
a0003a0009 | a0003c0003a0003c0004a0009c0012 | a0003c0003t0001a0003c0004t0001a0009c0012t0001 | a0003c0003t0001g0001a0003c0003t0001g0002a0003c0003t0001g0012others(17): Show | 23 | 276 | 0.0833 | 8 | c.150 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018742 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01069.hp1 others(40): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0005c0007t0001others(1): Show | a0002c0002t0001g0072a0002c0002t0001g0109a0002c0002t0001g0112others(40): Show | 43 | 276 | 0.1558 | 8 | c.150 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121025419 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0068a0001c0001t0001g0088a0001c0001t0001g0090others(80): Show | 83 | 276 | 0.3007 | 8 | c.100 others(23): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121041297 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02027.hp1 HG02258.hp2 others(6): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0006t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0073a0001c0006t0001g0194a0001c0006t0001g0195others(6): Show | 9 | 276 | 0.0326 | 8 | c.421 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 3/40 | chr9 | TogoVar | ||||||
C5orf22_chr5_31527301_31560053 | 31541105 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0023a0001c0001t0006g0046a0001c0001t0006g0047others(4): Show | 12 | 404 | 0.0297 | 8 | c.870 others(23): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |