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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0035 | 1 | 302 | 0.0033 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 302 | 0.0033 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0013 | 1 | 302 | 0.0033 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02135.hp1 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0004c0004t0006 | a0001c0001t0001g0141a0001c0001t0004g0096a0004c0004t0006g0048 | 3 | 302 | 0.0099 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118614935 | T | TATTATAA others(12): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0179 | 1 | 302 | 0.0033 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0110 | 2 | 342 | 0.0059 | 19 | c.208 others(36): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG01433.hp1 NA19064.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215a0002c0002t0001g0229 | 2 | 342 | 0.0059 | 19 | c.904 others(34): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 2 | 410 | 0.0049 | 19 | c.339 others(36): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8240614 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0129 | 1 | 418 | 0.0024 | 19 | c.-1- others(36): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8249206 | A | ATGGGTGG others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0012a0003c0007others(1): Show | a0001c0001t0001a0001c0012t0002a0003c0007t0003others(2): Show | a0001c0001t0001g0117a0001c0001t0001g0125a0001c0012t0002g0145others(5): Show | 8 | 418 | 0.0191 | 19 | c.-1- others(34): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03491.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0140a0001c0001t0003g0047a0001c0001t0003g0048others(1): Show | 4 | 418 | 0.0096 | 19 | c.*47 others(30): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01361.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0202a0001c0001t0002g0243others(10): Show | 13 | 418 | 0.0311 | 19 | c.*51 others(30): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0276 | 1 | 320 | 0.0031 | 19 | c.197 others(36): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168475534 | G | GGTAGAGG others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01255.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0153others(13): Show | 16 | 176 | 0.0909 | 19 | c.170 others(38): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0026a0001c0001t0004g0067 | 2 | 176 | 0.0114 | 19 | c.171 others(38): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168559754 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 176 | 0.0057 | 19 | c.277 others(36): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02622.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0310a0001c0001t0001g0318a0001c0001t0001g0320others(9): Show | 12 | 336 | 0.0357 | 19 | c.118 others(38): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01071.hp2 others(13): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0197a0001c0001t0001g0319a0001c0001t0003g0097others(12): Show | 16 | 449 | 0.0356 | 19 | c.552 others(34): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959938 | G | GGAAGAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 462 | 0.0022 | 19 | c.-20 others(30): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87408455 | T | TGCGCACA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0186others(30): Show | 37 | 376 | 0.0984 | 19 | c.-6+ others(32): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87434757 | C | CAAAGTGC others(12): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0222 | 1 | 376 | 0.0027 | 19 | c.130 others(35): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58751867 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158a0001c0002t0001g0197a0001c0002t0001g0198 | 3 | 204 | 0.0147 | 19 | c.233 others(38): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58941327 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 204 | 0.0049 | 19 | c.279 others(36): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 390 | 0.0026 | 19 | c.959 others(36): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 390 | 0.0026 | 19 | c.959 others(36): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0006 | 1 | 354 | 0.0028 | 19 | c.132 others(36): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966207 | C | CCCTCCCC others(12): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0060 | 1 | 354 | 0.0028 | 19 | c.249 others(36): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02683.hp2 NA18906.hp2 |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0001a0008c0010t0001 | a0003c0003t0001g0087a0003c0003t0001g0320a0008c0010t0001g0065 | 3 | 354 | 0.0085 | 19 | c.300 others(38): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 404 | 0.0025 | 19 | c.-77 others(28): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32600575 | A | AACGTCTG others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0008a0001c0001t0010a0001c0001t0014others(8): Show | a0001c0001t0008g0078a0001c0001t0008g0081a0001c0001t0008g0082others(22): Show | 27 | 416 | 0.0649 | 19 | c.*12 others(30): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 7/7 | 1287 | chr21 | TogoVar | |||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073a0001c0001t0003g0208 | 2 | 416 | 0.0048 | 19 | c.139 others(34): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80572507 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 96 | 0.0104 | 19 | c.243 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669145 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0001 | a0001c0001t0002g0027a0001c0003t0001g0089a0002c0002t0001g0028 | 3 | 96 | 0.0313 | 19 | c.333 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0023a0001c0001t0001g0039a0001c0001t0001g0063others(2): Show | 5 | 96 | 0.0521 | 19 | c.334 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 96 | 0.0104 | 19 | c.334 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799820 | T | TTATATAA others(12): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 96 | 0.0104 | 19 | c.334 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80937312 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18950.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0019a0001c0004t0001g0095 | 2 | 96 | 0.0208 | 19 | c.477 others(36): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP410_chr21_44323944_44344390 | 44334517 | A | ACCCCCCC others(12): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 436 | 0.0023 | 19 | c.143 others(36): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104125855 | T | TCGGTCGC others(12): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 306 | 0.0033 | 19 | c.*42 others(30): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 4032 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113324042 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19088.hp2 |
a0005a0016 | a0005c0005a0016c0024 | a0005c0005t0010a0016c0024t0024 | a0005c0005t0010g0015a0016c0024t0024g0280 | 2 | 348 | 0.0058 | 19 | c.451 others(38): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0007 | a0003c0007t0035 | a0003c0007t0035g0051 | 1 | 348 | 0.0029 | 19 | c.411 others(36): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113433429 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0120 | 1 | 348 | 0.0029 | 19 | c.100 others(34): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159873849 | C | CCTTCCTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01258.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(13): Show | 23 | 410 | 0.0561 | 19 | c.135 others(36): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01074.hp1 others(25): Show |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0001a0012c0016t0001 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0058others(17): Show | 28 | 410 | 0.0683 | 19 | c.104 others(38): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132820598 | A | ACTGATGT others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0130a0010c0011t0001g0240a0010c0011t0001g0241others(2): Show | 5 | 246 | 0.0203 | 19 | c.711 others(38): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822711 | A | ATGTGTGC others(12): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02886.hp1 others(1): Show |
a0038a0051a0064others(1): Show | a0038c0037a0051c0105a0064c0101others(1): Show | a0038c0037t0001a0051c0105t0001a0064c0101t0002others(1): Show | a0038c0037t0001g0230a0051c0105t0001g0239a0064c0101t0002g0022others(1): Show | 4 | 246 | 0.0163 | 19 | c.711 others(38): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887433 | T | TTCCTCTC others(12): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0050 | a0050c0104 | a0050c0104t0001 | a0050c0104t0001g0236 | 1 | 246 | 0.0041 | 19 | c.330 others(38): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887600 | T | TTCTCTCC others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0172 | 1 | 246 | 0.0041 | 19 | c.330 others(38): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9629496 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0274 | 2 | 316 | 0.0063 | 19 | c.117 others(36): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AGAGAGAG others(12): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0295 | 1 | 316 | 0.0032 | 19 | c.117 others(38): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar |