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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS3_chr15_100395395_100533950 | 100466840 | C | CCTCTCTC others(25): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0183a0001c0001t0002g0182others(2): Show | 5 | 362 | 0.0138 | 32 | c.845 others(49): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100466841 | C | CTCTCTCC others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01256.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0118a0001c0001t0001g0135others(23): Show | 26 | 362 | 0.0718 | 32 | c.845 others(49): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02280.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0002 | a0001c0001t0002g0146a0001c0001t0002g0243a0001c0012t0002g0145 | 3 | 418 | 0.0072 | 32 | c.-1- others(49): 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(25): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 418 | 0.0024 | 32 | c.*47 others(43): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0246a0001c0001t0003g0013 | 2 | 418 | 0.0048 | 32 | c.*51 others(43): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0014a0001c0004t0005g0009 | 2 | 320 | 0.0063 | 32 | c.197 others(51): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18952.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061a0002c0003t0003g0065 | 2 | 320 | 0.0063 | 32 | c.197 others(51): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03130.hp2 HG03704.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0094a0001c0001t0001g0098a0001c0001t0001g0175others(5): Show | 8 | 176 | 0.0455 | 32 | c.277 others(49): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645142 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 176 | 0.0057 | 32 | c.465 others(51): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03654.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0022 | a0001c0001t0002g0165a0001c0001t0002g0199a0001c0001t0002g0229others(1): Show | 4 | 336 | 0.0119 | 32 | c.118 others(51): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGAGAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0029 | 2 | 87 | 0.0230 | 32 | c.-26 others(43): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 87 | 0.0115 | 32 | c.-26 others(43): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTCTGT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0002c0005others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(10): Show | a0001c0002t0001g0354a0001c0002t0001g0359a0001c0002t0001g0362others(17): Show | 21 | 449 | 0.0468 | 32 | c.112 others(51): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576446 | G | GAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 32 | c.-39 others(43): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 390 | 0.0026 | 32 | c.959 others(49): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119552287 | T | TAATAAAT others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19085.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0115a0003c0003t0001g0114 | 2 | 226 | 0.0089 | 32 | c.240 others(49): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP298_chr21_32594354_32617377 | 32611338 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0188 | 1 | 416 | 0.0024 | 32 | c.139 others(47): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02040.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0004t0001g0050others(2): Show | 5 | 96 | 0.0521 | 32 | c.242 others(49): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390693 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00642.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0010others(9): Show | 12 | 96 | 0.1250 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390733 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 96 | 0.0104 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390756 | C | CATATGTA others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 HG03139.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0092a0001c0004t0001g0094a0001c0004t0001g0095 | 3 | 96 | 0.0313 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80559286 | G | GCTTTTGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0004a0002c0005a0002c0007 | a0001c0004t0001a0002c0005t0001a0002c0007t0001 | a0001c0004t0001g0022a0001c0004t0001g0050a0001c0004t0001g0061others(9): Show | 12 | 96 | 0.1250 | 32 | c.243 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799658 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0080 | 2 | 96 | 0.0208 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799671 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03017.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0035a0002c0002t0001g0001 | 2 | 96 | 0.0208 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799671 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0001 | a0001c0003t0001g0081a0001c0003t0001g0083a0001c0003t0001g0086others(5): Show | 8 | 96 | 0.0833 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902467 | T | TATATATG others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 96 | 0.0104 | 32 | c.476 others(51): 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(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0082others(21): Show | 29 | 436 | 0.0665 | 32 | c.143 others(49): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113367004 | G | GTGGAGGG others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0026 | a0026c0042 | a0026c0042t0078 | a0026c0042t0078g0320 | 1 | 348 | 0.0029 | 32 | c.244 others(49): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 18/34 | chr3 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823595 | T | TGCGCTGA others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0155 | 1 | 246 | 0.0041 | 32 | c.711 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132826165 | C | CAGAGCCA others(25): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0200 | 1 | 246 | 0.0041 | 32 | c.711 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887942 | A | ACCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03209.hp1 |
a0018 | a0018c0024 | a0018c0024t0001 | a0018c0024t0001g0211a0018c0024t0001g0212 | 2 | 246 | 0.0081 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888467 | A | ACCCCTGC others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0017 | a0017c0026 | a0017c0026t0002 | a0017c0026t0002g0099 | 1 | 246 | 0.0041 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888510 | A | ACCCCTGC others(25): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18967.hp2 |
a0002a0036 | a0002c0002a0036c0051 | a0002c0002t0001a0036c0051t0001 | a0002c0002t0001g0189a0036c0051t0001g0180 | 2 | 246 | 0.0081 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132912542 | T | TCTCTCTC others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0002a0003a0004others(22): Show | a0002c0002a0002c0003a0002c0023others(32): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(33): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(78): Show | 82 | 246 | 0.3333 | 32 | c.249 others(49): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924181 | G | GTACATGT others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0024 | a0024c0025 | a0024c0025t0005 | a0024c0025t0005g0182 | 1 | 216 | 0.0046 | 32 | c.250 others(49): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631024 | A | AAGAGAGA others(25): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 | 1 | 316 | 0.0032 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 316 | 0.0032 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03516.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0032a0002c0001t0001g0082 | 2 | 316 | 0.0063 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG06807.hp1 NA18945.hp1 |
a0001a0008 | a0001c0002a0008c0009 | a0001c0002t0001a0008c0009t0001 | a0001c0002t0001g0083a0001c0002t0001g0189a0008c0009t0001g0305 | 3 | 316 | 0.0095 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03130.hp2 NA18959.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0031a0001c0002t0001g0122a0002c0001t0001g0093 | 3 | 316 | 0.0095 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210a0001c0002t0001g0299 | 2 | 316 | 0.0063 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 402 | 0.0025 | 32 | c.131 others(51): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0059a0001c0001t0001g0256others(1): Show | 4 | 402 | 0.0100 | 32 | c.131 others(51): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180223 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03239.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0069a0002c0005t0001g0070 | 2 | 308 | 0.0065 | 32 | c.158 others(49): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43180238 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0023 | 1 | 308 | 0.0033 | 32 | c.158 others(49): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP68_chr11_111874541_111890975 | 111886738 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0026 | 2 | 392 | 0.0051 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 764 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886740 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 392 | 0.0026 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 766 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02148.hp2 HG02738.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0007a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0007g0001a0002c0003t0001g0001others(1): Show | 8 | 392 | 0.0204 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0001 | 1 | 392 | 0.0026 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1928187 | G | GGGAGGAA others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0033 | a0033c0100 | a0033c0100t0002 | a0033c0100t0002g0028 | 1 | 278 | 0.0036 | 32 | c.338 others(49): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar |