view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP299_chr4_80330730_80968750 | 80868905 | C | CTCTCTGT others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 96 | 0.0104 | 14 | c.334 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80900123 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 NA18957.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 others(2): Show |
5 | 96 | 0.0521 | 14 | c.476 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 96 | 0.0104 | 14 | c.476 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80916252 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0096 a0001c0004t0001g0022 others(2): Show |
5 | 96 | 0.0521 | 14 | c.477 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157775 | T | TGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18939.hp2 NA19009.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0279 a0001c0001t0001g0292 a0004c0005t0001g0284 |
3 | 306 | 0.0098 | 14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104157775 | T | TGTGAGAG others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02723.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0253 a0001c0001t0001g0254 |
3 | 306 | 0.0098 | 14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104233080 | C | CTACTGAA others(7): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0290 | 1 | 306 | 0.0033 | 14 | c.-83 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 717 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113324042 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02055.hp1 HG02717.hp1 others(4): Show |
a0004a0009a0012 | a0004c0004a0009c0010a0012c0017 | a0004c0004t0007a0004c0004t0012a0004c0004t0063others(3): Show | a0004c0004t0007g0309 a0004c0004t0012g0287 a0004c0004t0063g0302 others(4): Show |
7 | 348 | 0.0201 | 14 | c.451 others(33): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113433429 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(18): Show |
a0002a0004a0010others(2): Show | a0002c0002a0004c0004a0004c0045others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(6): Show | a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0103 others(18): Show |
21 | 348 | 0.0603 | 14 | c.100 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001a0002a0009 | a0001c0020a0002c0003a0009c0016 | a0001c0020t0001a0002c0003t0001a0009c0016t0001 | a0001c0020t0001g0178 a0002c0003t0001g0029 a0009c0016t0001g0264 |
4 | 410 | 0.0098 | 14 | c.104 others(33): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132804116 | G | GTCCCCTC others(7): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0049 | a0049c0084 | a0049c0084t0002 | a0049c0084t0002g0100 | 1 | 246 | 0.0041 | 14 | c.*43 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4275 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132804234 | T | TCGGCCCT others(7): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00733.hp2 NA19004.hp2 |
a0019a0031 | a0019c0027a0031c0107 | a0019c0027t0002a0031c0107t0002 | a0019c0027t0002g0028 a0019c0027t0002g0077 a0031c0107t0002g0022 |
3 | 246 | 0.0122 | 14 | c.*41 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4157 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821274 | G | GTGTGTGC others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0019a0082 | a0009c0044a0019c0027a0082c0104 | a0009c0044t0001a0019c0027t0002a0082c0104t0002 | a0009c0044t0001g0154 a0019c0027t0002g0028 a0019c0027t0002g0077 others(1): Show |
4 | 246 | 0.0163 | 14 | c.711 others(33): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822812 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 246 | 0.0041 | 14 | c.711 others(33): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132831220 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02647.hp1 HG03017.hp1 others(4): Show |
a0011a0025a0026others(4): Show | a0011c0079a0025c0042a0026c0016others(4): Show | a0011c0079t0001a0025c0042t0001a0026c0016t0001others(4): Show | a0011c0079t0001g0131 a0025c0042t0001g0166 a0026c0016t0001g0171 others(4): Show |
7 | 246 | 0.0285 | 14 | c.711 others(33): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888493 | G | GCACCCCG others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0033 | a0033c0077 | a0033c0077t0002 | a0033c0077t0002g0006 | 1 | 246 | 0.0041 | 14 | c.330 others(33): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888493 | G | GCACCCCG others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0011 | a0011c0025 | a0011c0025t0002 | a0011c0025t0002g0014 | 1 | 246 | 0.0041 | 14 | c.330 others(33): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923882 | T | TACATATA others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0023 | a0023c0058 | a0023c0058t0001 | a0023c0058t0001g0207 | 1 | 216 | 0.0046 | 14 | c.250 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923906 | C | CATATATG others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0010 | a0010c0054 | a0010c0054t0001 | a0010c0054t0001g0201 | 1 | 216 | 0.0046 | 14 | c.250 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924025 | A | ATGCACAC others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 NA20300.hp2 |
a0015a0020 | a0015c0020a0020c0021 | a0015c0020t0001a0020c0021t0001 | a0015c0020t0001g0212 a0020c0021t0001g0209 a0020c0021t0001g0210 |
3 | 216 | 0.0139 | 14 | c.250 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 HG02622.hp2 others(5): Show |
a0005a0009a0016others(4): Show | a0005c0015a0009c0007a0016c0018others(4): Show | a0005c0015t0001a0009c0007t0001a0016c0018t0001others(4): Show | a0005c0015t0001g0199 a0009c0007t0001g0197 a0009c0007t0001g0198 others(5): Show |
8 | 216 | 0.0370 | 14 | c.141 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36148901 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19240.hp1 |
a0007a0052 | a0007c0077a0052c0036 | a0007c0077t0001a0052c0036t0001 | a0007c0077t0001g0140 a0052c0036t0001g0010 |
2 | 216 | 0.0093 | 14 | c.567 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 36/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36270549 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03098.hp1 HG03195.hp1 others(1): Show |
a0013a0038a0040others(1): Show | a0013c0055a0038c0072a0040c0042others(1): Show | a0013c0055t0002a0038c0072t0001a0040c0042t0001others(1): Show | a0013c0055t0002g0191 a0038c0072t0001g0136 a0040c0042t0001g0011 others(1): Show |
4 | 216 | 0.0185 | 14 | c.744 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36371804 | A | ATGTGTAT others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02809.hp1 others(4): Show |
a0012a0020a0034 | a0012c0010a0012c0027a0020c0021others(1): Show | a0012c0010t0001a0012c0027t0001a0020c0021t0001others(1): Show | a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 others(4): Show |
7 | 216 | 0.0324 | 14 | c.918 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9596059 | G | GTATGTAT others(7): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0190 | 1 | 316 | 0.0032 | 14 | c.536 others(31): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631024 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0128 | 1 | 316 | 0.0032 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18984.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 a0001c0002t0001g0143 a0001c0002t0001g0231 |
3 | 316 | 0.0095 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 316 | 0.0032 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631040 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18959.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0171 a0002c0001t0001g0182 |
2 | 316 | 0.0063 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631044 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02602.hp1 NA19005.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0038 a0002c0001t0001g0095 a0002c0001t0001g0281 |
3 | 316 | 0.0095 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631048 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG02055.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0053 a0002c0001t0001g0110 a0002c0001t0001g0168 others(6): Show |
9 | 316 | 0.0285 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02148.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0060 a0002c0001t0002g0087 a0002c0001t0002g0204 |
3 | 316 | 0.0095 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAAA others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01169.hp2 HG02738.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0059 a0002c0001t0002g0109 a0002c0001t0002g0192 others(2): Show |
5 | 316 | 0.0158 | 14 | c.117 others(33): 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(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 316 | 0.0032 | 14 | c.117 others(33): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631082 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18953.hp1 NA18957.hp2 others(1): Show |
a0002a0013 | a0002c0001a0013c0008 | a0002c0001t0001a0013c0008t0001 | a0002c0001t0001g0112 a0002c0001t0001g0264 a0002c0001t0001g0266 others(1): Show |
4 | 316 | 0.0127 | 14 | c.117 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 402 | 0.0025 | 14 | c.131 others(33): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03669.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0164 a0003c0003t0001g0232 |
2 | 402 | 0.0050 | 14 | c.131 others(33): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0229 | 1 | 402 | 0.0025 | 14 | c.131 others(33): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486137 | T | TTTTCTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01891.hp2 others(13): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0003a0002c0007others(7): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(8): Show | a0001c0001t0001g0165 a0002c0003t0001g0121 a0002c0003t0001g0169 others(13): Show |
16 | 268 | 0.0597 | 14 | c.-34 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96512301 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA19081.hp2 NA19082.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0001a0002c0003t0001 | a0001c0012t0001g0014 a0002c0003t0001g0131 |
2 | 268 | 0.0075 | 14 | c.740 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96544410 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0030 | a0030c0093 | a0030c0093t0001 | a0030c0093t0001g0158 | 1 | 268 | 0.0037 | 14 | c.207 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 14/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTGTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19058.hp1 NA19090.hp1 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0197 a0008c0008t0001g0200 a0008c0008t0001g0202 |
3 | 268 | 0.0112 | 14 | c.377 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0012 | 1 | 268 | 0.0037 | 14 | c.377 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96634046 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0007 | a0007c0087 | a0007c0087t0001 | a0007c0087t0001g0178 | 1 | 268 | 0.0037 | 14 | c.431 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96638206 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0082 | a0004c0082t0001 | a0004c0082t0001g0167 | 1 | 268 | 0.0037 | 14 | c.431 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01081.hp1 others(20): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0012a0001c0078others(9): Show | a0001c0001t0001a0001c0012t0001a0001c0078t0001others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0048 others(20): Show |
23 | 268 | 0.0858 | 14 | c.454 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0039 | 1 | 268 | 0.0037 | 14 | c.510 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664781 | A | ATCTATAT others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0063 | 1 | 268 | 0.0037 | 14 | c.556 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96752085 | T | TGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG01192.hp2 others(11): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0012a0005c0004others(5): Show | a0001c0001t0001a0001c0012t0001a0005c0004t0001others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0078 others(11): Show |
14 | 268 | 0.0522 | 14 | c.768 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 55/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96806213 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02258.hp2 NA19004.hp1 others(2): Show |
a0002a0003a0020 | a0002c0058a0003c0002a0003c0072others(1): Show | a0002c0058t0001a0003c0002t0001a0003c0072t0001others(1): Show | a0002c0058t0001g0077 a0003c0002t0001g0210 a0003c0002t0001g0228 others(2): Show |
5 | 268 | 0.0187 | 14 | c.885 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |