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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp1 others(5): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0001 | a0002c0003t0001g0054a0002c0003t0001g0055a0002c0003t0001g0057others(5): Show | 8 | 318 | 0.0252 | 20 | c.152 others(37): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp2 others(8): Show |
a0002a0008a0010others(1): Show | a0002c0003a0002c0005a0008c0007others(2): Show | a0002c0003t0001a0002c0003t0005a0002c0005t0001others(3): Show | a0002c0003t0001g0197a0002c0003t0001g0204a0002c0003t0001g0208others(8): Show | 11 | 318 | 0.0346 | 20 | c.484 others(37): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74151305 | C | CTTTATTT others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0316 | 1 | 318 | 0.0031 | 20 | c.483 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201581433 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0032 | a0032c0037 | a0032c0037t0001 | a0032c0037t0001g0265 | 1 | 270 | 0.0037 | 20 | c.639 others(35): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 5/15 | chr2 | TogoVar | ||||||
C2orf42_chr2_70144885_70196019 | 70154414 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 346 | 0.0029 | 20 | c.151 others(39): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
C2orf50_chr2_11128128_11156317 | 11132997 | T | TCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0030 | 1 | 380 | 0.0026 | 20 | c.-33 others(29): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 130 | chr2 | TogoVar | ||||||
C2orf68_chr2_85600254_85617066 | 85614979 | A | AGTGTGGT others(13): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0002a0001c0001t0006g0028 | 2 | 376 | 0.0053 | 20 | c.-30 others(31): Show |
C2orf68 | ENSG00000168887.11 | transcript | ENST00000306336.6 | protein_coding | 2914 | chr2 | TogoVar | ||||||
C2orf68_chr2_85600254_85617066 | 85616180 | T | TCGGCCGG others(13): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 376 | 0.0053 | 20 | c.-42 others(31): Show |
C2orf68 | ENSG00000168887.11 | transcript | ENST00000306336.6 | protein_coding | 4115 | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG01943.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0120others(10): Show | 22 | 412 | 0.0534 | 20 | c.334 others(37): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf72_chr2_231032523_231054719 | 231044945 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02738.hp2 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0001c0003t0029a0002c0001t0003 | a0001c0003t0003g0151a0001c0003t0003g0153a0001c0003t0003g0200others(4): Show | 7 | 460 | 0.0152 | 20 | c.749 others(37): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208169269 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01175.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0001g0232a0001c0001t0001g0260others(8): Show | 11 | 342 | 0.0322 | 20 | c.573 others(37): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf88_chr2_190175863_190208484 | 190192452 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0112a0002c0002t0008g0290a0002c0002t0008g0291 | 3 | 420 | 0.0071 | 20 | c.-16 others(39): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3_chr19_6672704_6725650 | 6689360 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 370 | 0.0027 | 20 | c.348 others(39): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155770962 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0376 | 1 | 406 | 0.0025 | 20 | c.323 others(37): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0003 | 2 | 320 | 0.0063 | 20 | c.*55 others(31): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf62_chr3_49263596_49282232 | 49267670 | C | CATTTATT others(13): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG03453.hp2 NA19065.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0009 | a0002c0002t0001g0033a0003c0003t0009g0031 | 3 | 326 | 0.0092 | 20 | c.*35 others(31): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 925 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0026a0001c0001t0002g0037a0001c0001t0002g0038others(31): Show | 34 | 388 | 0.0876 | 20 | c.*90 others(31): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02723.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 3 | 410 | 0.0073 | 20 | c.-18 others(31): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49194290 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 306 | 0.0033 | 20 | c.-25 others(31): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2433 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02165.hp2 HG02293.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0002 | a0001c0001t0002g0109a0001c0002t0001g0016a0001c0002t0001g0107others(2): Show | 9 | 370 | 0.0243 | 20 | c.49+ others(33): 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(13): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19010.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0051a0001c0002t0011g0051 | 2 | 370 | 0.0054 | 20 | c.49+ others(33): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4A_chr6_31977057_32007681 | 31978882 | C | CTCTCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 322 | 0.0031 | 20 | c.-32 others(31): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 3174 | chr6 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207118213 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02922.hp1 NA20129.hp2 |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0007 | a0001c0001t0001a0005c0008t0001a0006c0007t0001 | a0001c0001t0001g0062a0005c0008t0001g0276a0006c0007t0001g0307 | 3 | 342 | 0.0088 | 20 | c.428 others(37): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4BPB_chr1_207083860_207104993 | 207086940 | T | TCAATTCA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(261): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(87): Show | 264 | 388 | 0.6804 | 20 | c.-20 others(31): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 1919 | chr1 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTGTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02055.hp1 |
a0002a0004 | a0002c0004a0004c0005 | a0002c0004t0001a0004c0005t0001 | a0002c0004t0001g0247a0004c0005t0001g0040a0004c0005t0001g0045 | 3 | 386 | 0.0078 | 20 | c.-47 others(31): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTTTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 NA18944.hp1 NA18956.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0005 | a0001c0001t0001a0003c0002t0001a0004c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0080a0001c0001t0001g0090others(3): Show | 6 | 386 | 0.0155 | 20 | c.-47 others(31): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18946.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0110a0001c0001t0001g0124a0001c0001t0001g0182others(1): Show | 4 | 354 | 0.0113 | 20 | c.-72 others(39): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37595572 | G | GACATGGT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0044a0001c0001t0001g0059a0001c0001t0001g0075others(120): Show | 125 | 354 | 0.3531 | 20 | c.*45 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2063 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37595593 | A | ACATGGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02723.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0009a0005c0009t0047 | a0001c0001t0009g0001a0001c0001t0009g0056a0001c0001t0009g0181others(3): Show | 7 | 354 | 0.0198 | 20 | c.*45 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2084 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0191 | 1 | 354 | 0.0028 | 20 | c.*57 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0004 | a0001c0001t0011g0134a0002c0002t0004g0226 | 2 | 354 | 0.0057 | 20 | c.*57 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0344 | 1 | 354 | 0.0028 | 20 | c.*57 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01975.hp2 NA18943.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0002c0002t0004 | a0001c0001t0002g0233a0001c0001t0002g0325a0001c0001t0009g0263others(1): Show | 4 | 354 | 0.0113 | 20 | c.*57 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598078 | A | AATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02970.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082a0001c0001t0003g0116a0001c0001t0003g0300others(1): Show | 4 | 354 | 0.0113 | 20 | c.*70 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4569 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158911347 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0158a0003c0007t0001g0122 | 2 | 264 | 0.0076 | 20 | c.546 others(37): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 264 | 0.0038 | 20 | c.357 others(39): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158964150 | C | CACAAAAC others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 264 | 0.0038 | 20 | c.298 others(37): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACATA others(13): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 264 | 0.0038 | 20 | c.64+ others(37): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443320 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 | 1 | 358 | 0.0028 | 20 | c.715 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 358 | 0.0028 | 20 | c.715 others(37): 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(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0056 | a0056c0063 | a0056c0063t0000 | a0056c0063t0000g0070 | 1 | 346 | 0.0029 | 20 | c.369 others(37): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643739 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0088 | 1 | 392 | 0.0026 | 20 | c.*37 others(37): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 392 | 0.0026 | 20 | c.*37 others(37): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99648554 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02055.hp1 others(7): Show |
a0005 | a0005c0005 | a0005c0005t0005a0005c0005t0014a0005c0005t0016others(2): Show | a0005c0005t0005g0098a0005c0005t0005g0099a0005c0005t0005g0102others(6): Show | 10 | 392 | 0.0255 | 20 | c.*36 others(35): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 276 | 0.0036 | 20 | c.256 others(39): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 276 | 0.0036 | 20 | c.256 others(39): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002a0005a0011 | a0002c0002a0002c0026a0005c0007others(1): Show | a0002c0002t0001a0002c0026t0001a0005c0007t0001others(1): Show | a0002c0002t0001g0110a0002c0002t0001g0124a0002c0002t0001g0128others(25): Show | 28 | 276 | 0.1015 | 20 | c.256 others(39): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01928.hp2 NA18979.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0129a0002c0002t0001g0135a0002c0002t0001g0145others(3): Show | 6 | 276 | 0.0217 | 20 | c.256 others(39): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018742 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0028 | 1 | 276 | 0.0036 | 20 | c.150 others(37): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121024324 | A | AGGGGGAG others(13): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0192 | 2 | 276 | 0.0073 | 20 | c.100 others(37): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar |